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whole-exome sequencing
Updates on Clinical and Genetic Heterogeneity of
ASPM
in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population
Article
Year: 2021
Pages: 1
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Investigation of a Novel
LRP6
Variant Causing Autosomal-Dominant Tooth Agenesis
Article
Year: 2021
Pages: 1
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Integrated Analysis of the Clinical and Molecular Characteristics of IDH Wild-Type Gliomas in the Chinese Glioma Genome Atlas
Article
Year: 2021
Pages: 1
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Whole-exome sequencing reveals
POLR3B
variants associated with progeria-related Wiedemann-Rautenstrauch syndrome
Article
Year: 2021
Pages: 1
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Familial Optic Disc Pits in 2 Father-Son Pairs: Clinical Features and Genetic Analysis
Article
Year: 2021
Pages: 8
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Brain Tissue Low-Level Mosaicism for
MTOR
Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue
Article
Year: 2021
Pages: 1
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Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure
Article
Year: 2021
Pages: 1
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Genetic Investigation of Inverse Psoriasis
Article
Year: 2021
Pages: 1
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Whole-exome sequencing reveals MYH7 p.R671C mutation in three different phenotypes of familial hypertrophic cardiomyopathy
Article
Year: 2021
Pages: 1
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Genomic Analyses of Metaplastic or Sarcomatoid Carcinomas From Different Organs Revealed Frequent Mutations in KMT2D
Article
Year: 2021
Pages: 1
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Mutational Characteristics of Causative Genes in Chinese Hereditary Spherocytosis Patients: a Report on Fourteen Cases and a Review of the Literature
Article
Year: 2021
Pages: 1
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Whole exome sequencing, in silico and functional studies confirm the association of the
GJB2
mutation p.Cys169Tyr with deafness and suggest a role for the
TMEM59
gene in the hearing process
Article
Year: 2021
Pages: 9
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Variation p.R1045H in
MYH7
correlated with hypertrophic cardiomyopathy in a Chinese pedigree
Article
Year: 2021
Pages: 1
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Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the
SLC2A1
in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report
Article
Year: 2021
Pages: 1
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The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health
Article
Year: 2021
Pages: 1
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The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review
Article
Year: 2021
Pages: 1
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The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype
Article
Year: 2021
Pages: 1
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Molecular diagnosis of McArdle disease using whole-exome sequencing
Article
Year: 2021
Pages: 1
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A novel cryptic splice site mutation in
COL1A2
as a cause of osteogenesis imperfecta
Article
Year: 2021
Pages: 1
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Neoantigen load as a prognostic and predictive marker for stage II/III non‐small cell lung cancer in Chinese patients
Article
Year: 2021
Pages: 12
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Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease
Article
Pages: 1
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Identification of rare
PTCH1
nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype-phenotype analysis
Article
Year: 2020
Pages: 9
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ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants
Article
Year: 2021
Pages: 1
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The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies
Article
Year: 2020
Pages: 10
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Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease
Article
Year: 2021
Pages: 1
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Genetic aetiology of primary adrenal insufficiency in Chinese children
Article
Year: 2021
Pages: 1
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First Chinese patient with mental retardation-40 due to a
de novo
CHAMP1 frameshift mutation: Case report and literature review
Article
Year: 2021
Pages: 1
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Type 1 Diabetes and the HLA Region: Genetic Association Besides Classical HLA Class II Genes
Article
Year: 2021
Pages: 1
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Case Report: Sequential Chemotherapy and Immunotherapy Produce Sustained Response in Osteosarcoma With High Tumor Mutational Burden
Article
Year: 2021
Pages: 1
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The evolving role of whole-exome sequencing in the management of disorders of sex development
Article
Year: 2021
Pages: 10
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Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report
Article
Year: 2021
Pages: 1
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Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases
Article
Pages: 11
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Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?
Article
Year: 2021
Pages: 1
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Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population
Article
Year: 2021
Pages: 1
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Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics
Article
Year: 2021
Pages: 1
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A Simple Practical Guide to Genomic Diagnostics in a Pediatric Setting
Article
Year: 2021
Pages: 1
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Somatic Functional Deletions of Upstream Open Reading Frame-Associated Initiation and Termination Codons in Human Cancer
Article
Year: 2021
Pages: 1
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The
TNFRSF13C
H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy
Article
Year: 2021
Pages: 1
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Identification of Novel Biallelic
TLE6
Variants in Female Infertility With Preimplantation Embryonic Lethality
Article
Year: 2021
Pages: 1
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Alport syndrome combined with lupus nephritis in a Chinese family: A case report
Article
Year: 2021
Pages: 7
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A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood
Article
Year: 2021
Pages: 1
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Germline and somatic mutations in the pathology of pineal cyst: A whole‐exome sequencing study of 93 individuals
Article
Year: 2021
Pages: 1
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Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C)
Article
Year: 2021
Pages: 6650
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Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α
-Actin 1
in a Chinese Family With Macrothrombocytopenia and Mild Bleeding
Article
Year: 2021
Pages: 1
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Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia
Article
Year: 2021
Pages: 1
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Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management
Article
Year: 2021
Pages: 1
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Behçet's Syndrome in a Chinese Pedigree of NLRP3-Associated Autoinflammatory Disease: A Coexistence or Novel Presentation?
Article
Year: 2021
Pages: 1
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A Rare Variant of
ANK3
Is Associated With Intracranial Aneurysm
Article
Year: 2021
Pages: 1
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TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia
Article
Year: 2021
Pages: 1
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Molecular Landscape of Vulvar Squamous Cell Carcinoma
Article
Year: 2021
Pages: 1
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Whole-Exome Sequencing to Identify Potential Genetic Risk in Substance Use Disorders: A Pilot Feasibility Study
Article
Year: 2021
Pages: 1
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NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China
Article
Year: 2021
Pages: 1
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Case Report: A Novel Compound Heterozygous Mutation in
IL-10RA
in a Chinese Child With Very Early-Onset Inflammatory Bowel Disease
Article
Year: 2021
Pages: 1
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Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting
Article
Year: 2021
Pages: 1
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Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics
Article
Year: 2021
Pages: 13
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Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants
Article
Year: 2021
Pages: 1
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Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing
Article
Year: 2021
Pages: 1
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Whole Exome Sequencing of Biliary Tubulopapillary Neoplasms Reveals Common Mutations in Chromatin Remodeling Genes
Article
Year: 2021
Pages: 1
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A substitution mutation in LRP8 gene is significantly associated with susceptibility to familial myocardial infarction
Article
Pages: 5
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CNKSR2 gene mutation leads to Houge type of X-linked syndromic mental retardation
A case report and review of literature
Article
Year: 2021
Pages: 1
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Highly Efficient and Comprehensive Identification of Ethyl Methanesulfonate-Induced Mutations in
Nicotiana tabacum
L. by Whole-Genome and Whole-Exome Sequencing
Article
Year: 2021
Pages: 1
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Alzheimer Disease Pathology-Associated Polymorphism in a Complex Variable Number of Tandem Repeat Region Within the
MUC6
Gene, Near the
AP2A2
Gene
Article
Year: 2019
Pages: 19
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Corrigendum: Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy
Article
Year: 2021
Pages: 1
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Correlation Between the Evolution of Somatic Alterations During Lymphatic Metastasis and Clinical Outcome in Penile Squamous Cell Carcinoma
Article
Year: 2021
Pages: 1
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Identification of sixteen novel candidate genes for late onset Parkinson’s disease
Article
Year: 2021
Pages: 1
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Characterization of genotype–phenotype correlation with MORC2 mutated Axonal Charcot–Marie–Tooth disease in a cohort of Chinese patients
Article
Year: 2021
Pages: 1
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Clinical and genetic findings in patients with congenital cataract and heart diseases
Article
Year: 2021
Pages: 1
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Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia
Article
Year: 2021
Pages: 1
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Genomic and Transcriptomic Characterization of Canine Osteosarcoma Cell Lines: A Valuable Resource in Translational Medicine
Article
Year: 2021
Pages: 1
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Identification of novel
CSNK2A1
variants and the genotype–phenotype relationship in patients with Okur–Chung neurodevelopmental syndrome: a case report and systematic literature review
Article
Year: 2021
Pages: 1
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Whole genome, exon mutation and transcriptomic profiling of acute myeloid leukemia: A case report
Article
Year: 2021
Pages: 1
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Regulatory Noncoding and Predicted Pathogenic Coding Variants of
CCR5
Predispose to Severe COVID-19
Article
Year: 2021
Pages: 1
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EYA2 suppresses the progression of hepatocellular carcinoma via SOCS3-mediated blockade of JAK/STAT signaling
Article
Year: 2021
Pages: 1
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TET2
and
DNMT3A
mutations and exceptional response to 4′-thio-2′-deoxycytidine in human solid tumor models
Article
Year: 2021
Pages: 1
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Case Report:
MDM4
Amplified in a Thymoma Patient With Autoimmune Enteropathy and Myocarditis
Article
Year: 2021
Pages: 1
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Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies
Article
Year: 2021
Pages: 1
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Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism
Article
Year: 2020
Pages: 6
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Characterization of
ETFDH
and
PHGDH
Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency
Article
Year: 2021
Pages: 1
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Establishment and histopathological study of patient-derived xenograft models and primary cell lines of epithelioid malignant peritoneal mesothelioma
Article
Year: 2021
Pages: 11
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Genomic and Pathological Characterization of Multiple Renal Cell Carcinoma Regions in Patient With Tuberous Sclerosis Complex: A Case Report
Article
Year: 2021
Pages: 1
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Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG)
Article
Year: 2021
Pages: 1
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A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics
Article
Year: 2021
Pages: 1
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Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort
Article
Year: 2021
Pages: 1
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Identification of a Homozygous
PEX26
Mutation in a Heimler Syndrome Patient
Article
Year: 2021
Pages: 1
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Translational Attenuation by an Intron Retention in the 5′ UTR of
ENAM
Causes Amelogenesis Imperfecta
Article
Year: 2021
Pages: 1
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Genetic Predictors for Sinusoidal Obstruction Syndrome—A Systematic Review
Article
Year: 2021
Pages: 1
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Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes
Article
Year: 2021
Pages: 1
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Occurrence of Chordoid Glioma With Sodium Ion Metabolism Disorder 5 Years After Meningioma Surgery and Whole-Exome Sequencing: A Case Report and Literature Review
Article
Year: 2021
Pages: 1
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Novel Autosomal Recessive Splice-Altering Variant in
PRKD1
Is Associated with Congenital Heart Disease
Article
Year: 2021
Pages: 1
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WEScover
: selection between clinical whole exome sequencing and gene panel testing
Article
Year: 2021
Pages: 1
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The identification of novel gene mutations for degenerative lumbar spinal stenosis using whole-exome sequencing in a Chinese cohort
Article
Year: 2021
Pages: 1
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Clinical application of whole-exome sequencing: A retrospective, single-center study
Article
Year: 2021
Pages: 1
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Cell-Free DNA Analysis by Whole-Exome Sequencing for Hepatocellular Carcinoma: A Pilot Study in Thailand
Article
Year: 2021
Pages: 1
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The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature
Article
Year: 2021
Pages: 1
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Zika Virus Congenital Syndrome and
MTOR
gene variants: insights from a family of dizygotic twins
Article
Year: 2021
Pages: 1
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Comprehensive analysis of genomic and immunological profiles in Chinese and Western hepatocellular carcinoma populations
Article
Year: 2021
Pages: 31
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Identification of a novel homozygous
loss-of-function
mutation in
FUCA1
gene causing severe fucosidosis: A case report
Article
Year: 2021
Pages: 1
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Initiative on Rare and Undiagnosed Disease in Japan
Article
Year: 2021
Pages: 7
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Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1
Article
Year: 2021
Pages: 1
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Dual activating
FGFR1
mutations in pediatric pilomyxoid astrocytoma
Article
Year: 2021
Pages: 1
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Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report
Article
Year: 2021
Pages: 1
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Identification of a novel homozygous mutation in the
DDR2
gene from a patient with spondylo-meta-epiphyseal dysplasia by whole exome sequencing
Article
Pages: 5
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Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders
Article
Year: 2021
Pages: 1
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LOXL4 Abrogation Does Not Exaggerate Angiotensin II-Induced Thoracic or Abdominal Aortic Aneurysm in Mice
Article
Year: 2021
Pages: 1
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Trans-Ancestry Mutation Landscape of Hepatoblastoma Genomes in Children
Article
Year: 2021
Pages: 1
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Estimating sequencing error rates using families
Article
Year: 2021
Pages: 1
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CD8 lymphocytes in tumors and nonsynonymous mutational load correlate with prognosis of bladder cancer patients treated with immune checkpoint inhibitors
Article
Year: 2018
Pages: 1
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Case Report: Compound Heterozygous Variants in
MOCS3
Identified in a Chinese Infant With Molybdenum Cofactor Deficiency
Article
Year: 2021
Pages: 1
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Whole exome sequencing reveals a biallelic frameshift mutation in
GRXCR2
in hearing impairment in Cameroon
Article
Year: 2021
Pages: 1
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Familial Psychosis Associated With a Missense Mutation at
MACF1
Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the
CNTN6
and
CDH13
Genes
Article
Year: 2021
Pages: 1
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A somatic mutation in
PIK3CD
unravels a novel candidate gene for lymphatic malformation
Article
Year: 2021
Pages: 1
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Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of
RAB3GAP1
: a case report
Article
Year: 2021
Pages: 1
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Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies
Article
Year: 2021
Pages: 1
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Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations
Article
Year: 2021
Pages: 11
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HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death
Article
Year: 2021
Pages: 1
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The application of late amniocentesis: a retrospective study in a tertiary fetal medicine center in China
Article
Year: 2021
Pages: 1
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Comparison of Structural and Short Variants Detected by Linked-Read and Whole-Exome Sequencing in Multiple Myeloma
Article
Year: 2021
Pages: 1
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Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing
Article
Year: 2021
Pages: 1
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Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers
Article
Year: 2021
Pages: 1
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Novel Homozygous Mutations in the Genes
TGM1
,
SULT2B1
,
SPINK5
and
FLG
in Four Families Underlying Congenital Ichthyosis
Article
Year: 2021
Pages: 1
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Phenotypic Diversity of Cardiomyopathy Caused by an
MYBPC3
Frameshift Mutation in a Korean Family: A Case Report
Article
Year: 2021
Pages: 1
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A Novel De Novo
SP6
Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta
Article
Year: 2021
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A novel homozygous frameshift mutation in
MNS1
associated with severe oligoasthenoteratozoospermia in humans
Article
Year: 2020
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Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy
Article
Year: 2021
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Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
Article
Year: 2021
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Recent Advances in Our Knowledge of mCRC Tumor Biology and Genetics: A Focus on Targeted Therapy Development
Article
Year: 2021
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Diagnosis and management of adenosine deaminase 2 deficiency children: the experience from China
Article
Year: 2021
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A novel age-informed approach for genetic association analysis in Alzheimer’s disease
Article
Year: 2021
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Association of
MUC19
Mutation With Clinical Benefits of Anti-PD-1 Inhibitors in Non-small Cell Lung Cancer
Article
Year: 2021
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Case Report: Novel RPGRIP1L Gene Mutations Identified by Whole Exome Sequencing in a Patient With Multiple Primary Tumors
Article
Year: 2021
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Pathway Mutations in Breast Cancer Using Whole-Exome Sequencing
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Year: 2020
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Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing: A case report
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Year: 2021
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Screening of Graves' disease susceptibility genes by whole exome sequencing in a three-generation family
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Year: 2021
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Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease
Article
Year: 2020
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SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
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Year: 2021
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Genetics and Clinical Features of Noncompaction Cardiomyopathy in the Fetal Population
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Year: 2021
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Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth
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Pages: 10
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Whole exome sequencing of a family revealed a novel variant in the
CHM
gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia
Article
Year: 2020
Pages: 1
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Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria
Article
Year: 2020
Pages: 1
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Methodological differences can affect sequencing depth with a possible impact on the accuracy of genetic diagnosis
Article
Year: 2020
Pages: 1
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Compound Phenotype Due to Recessive Variants in
LARP7
and
OTOG
Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing
Article
Year: 2020
Pages: 1
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Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisis
Article
Year: 2020
Pages: 1
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Congenital dyserythropoiesis anemia type Ia with a novel
CDAN1
mutation diagnosed by whole exome sequencing
Article
Year: 2020
Pages: 1
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NGLY1 deficiency—A rare congenital disorder of deglycosylation
Article
Year: 2020
Pages: 8
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Concurrent pathogenic variants in
SLC6A1
/
NOTCH1
/
PRIMPOL
genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia
Article
Year: 2020
Pages: 1
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Molecular characteristics of synchronous multiple gastric cancer
Article
Year: 2020
Pages: 12
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