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SET domain containing 1B gene is mutated in primary hepatic neuroendocrine tumors
Free accessBASE | 2019|Keywords: whole-exome sequencing -
SET domain containing 1B gene is mutated in primary hepatic neuroendocrine tumors
Wiley | 2019|Keywords: whole‐exome sequencing -
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort
Wiley | 2020|Keywords: whole exome sequencing -
Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing
Online Contents | 2016|Keywords: Whole exome sequencing -
Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing
Wiley | 2016|Keywords: Whole exome sequencing -
Panel‐based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns
Free accessWiley | 2017|Keywords: whole exome sequencing -
Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia
Free accessWiley | 2020|Keywords: whole‐exome sequencing -
Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches
Karger Verlag | 2018|Keywords: Whole exome sequencing -
MutationDistiller: user-driven identification of pathogenic DNA variants
Free accessBASE | 2019|Keywords: Whole Exome Sequencing (WES) -
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia
Wiley | 2014|Keywords: Whole‐exome sequencing -
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia
Wiley | 2020|Keywords: whole‐exome sequencing -
Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood–Expanding the Phenotype of a Recently Reported Condition
Thieme Verlag | 2019|Keywords: whole exome sequencing -
Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant
Wiley | 2015|Keywords: whole exome sequencing -
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 heterozygous variant p.(Trp538Arg) of SYNM is identified by whole‐exome sequencing in a Chinese family with dilated cardiomyopathy
Wiley | 2019|Keywords: whole‐exome sequencing -
The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency
Thieme Verlag | 2019|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 -
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers
Wiley | 2018|Keywords: whole exome sequencing -
Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic
Thieme Verlag | 2019|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
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