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A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract
Wiley | 2022|Keywords: whole‐exome sequencing -
A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis
Thieme Verlag | 2021|Keywords: whole exome sequencing -
A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole‐exome sequencing
Wiley | 2018|Keywords: whole‐exome sequencing -
Pathogenic role of ADGRG2 in CBAVD patients replicated in Chinese population
Wiley | 2017|Keywords: whole‐exome sequencing -
A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth
Karger Verlag | 2019|Keywords: Whole-exome sequencing -
Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing
Online Contents | 2013|Keywords: Whole-exome sequencing -
Whole exome sequencing to identify genetic markers for trastuzumab‐induced cardiotoxicity
Free accessWiley | 2018|Keywords: whole exome sequencing -
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases
Free accessWiley | 2018|Keywords: whole exome sequencing -
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders
Wiley | 2016|Keywords: Whole exome sequencing -
A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non‐syndromic congenital heart disease
Free accessWiley | 2020|Keywords: whole‐exome sequencing -
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
Karger Verlag | 2018|Keywords: Whole exome sequencing -
Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review
Thieme Verlag | 2019|Keywords: whole exome sequencing -
Mutations in the VPS16 Gene in 56 Early‐Onset Dystonia Patients
Wiley | 2021|Keywords: VPS16; early onset; dystonia; whole‐exome sequencing -
A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype
Free accessWiley | 2022|Keywords: whole exome sequencing -
Genetic screening of Chinese patients with hydatidiform mole by whole-exome sequencing and comprehensive analysis
Online Contents | 2022|Keywords: Whole-exome sequencing -
Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families
Online Contents | 2019|Keywords: whole-exome sequencing -
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder
Wiley | 2016|Keywords: whole exome sequencing -
CLTC as a clinically novel gene associated with multiple malformations and developmental delay
Wiley | 2016|Keywords: whole exome sequencing -
GRIN2D variants in three cases of developmental and epileptic encephalopathy
Wiley | 2018|Keywords: whole exome sequencing -
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis
Wiley | 2018|Keywords: whole exome sequencing
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