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pathogenic variants
Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells
Article
Year: 2020
Pages: 12
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A novel and recurrent
KLHL40
pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8
Article
Year: 2021
Pages: 1
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Comparison of germline mutations in African American and Caucasian men with metastatic prostate cancer
Article
Year: 2021
Pages: 7
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Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study
Article
Year: 2021
Pages: 1
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Risk stratification and subclinical phenotyping of dilated and/or arrhythmogenic cardiomyopathy mutation-positive relatives: CVON eDETECT consortium
Article
Year: 2021
Pages: 8
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PedMiner: a tool for linkage analysis-based identification of disease-associated variants using family based whole-exome sequencing data
Article
Year: 2020
Pages: 1
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Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg
Article
Year: 2021
Pages: 1
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Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry
Article
Year: 2021
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Novel biallelic variant in
BBS9
causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations
Article
Year: 2021
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ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders
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Article
Year: 2020
Pages: 1
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