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Clinical Reports
Search result(s): 20
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Telepractice in School-Age Children Who Stutter: A Controlled Before and After Study to Evaluate the Efficacy Of MIDA-SP
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The Canadian Occupational Performance Measure: a Feasible Multidisciplinary Outcome Measure for Pediatric Telerehabilitation
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Facial Tightening Effects, Following Focused and Radial Acoustic Wave Therapy Assessment, Using a Three‐Dimensional Digital Imaging
Article
Year: 2020
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The Fractional CO
2
Laser for the Treatment of Genitourinary Syndrome of Menopause: A Prospective Multicenter Cohort Study
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Year: 2020
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The Fractional CO
2
Laser for the Treatment of Genitourinary Syndrome of Menopause: A Prospective Multicenter Cohort Study
Article
Year: 2020
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Management of COVID‐19 infection in organic acidemias
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Year: 2021
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Costello syndrome with special cutaneous manifestations and
HRAS
G12D mutation: A case report and literature review
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Year: 2021
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Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum
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Year: 2021
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The first Japanese family of
CDH3
‐related hypotrichosis with juvenile macular dystrophy
Article
Year: 2021
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Novel mutations in
BMP1
result in a patient with autosomal recessive osteogenesis imperfecta
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Year: 2021
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A novel and recurrent
KLHL40
pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8
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Year: 2021
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Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report
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Year: 2021
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Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency
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Year: 2021
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Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype
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Year: 2021
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Severe brain calcification and migraine headache caused by
SLC20A2
and
PDGFRB
heterozygous mutations in a five‐year‐old Chinese girl
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Year: 2021
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Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause
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Year: 2021
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A novel essential splice site variant in SPTB in a large hereditary spherocytosis family
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Year: 2021
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Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype
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Year: 2021
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Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (
SLC6A8
) deficiency
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Year: 2021
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Deletion of conserved non‐coding sequences downstream from
NKX2‐1
: A novel disease‐causing mechanism for benign hereditary chorea
Article
Year: 2021
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