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Journal of Paediatrics and Child Health|March 25, 2017
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disordersMajid Alfadhel, Ali Al Othaim, Saif Al Saif, et al.
Human Molecular Genetics|May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
The Journal of Clinical Investigation|May 26, 2022
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesisJonathan Shintaku, Wolfgang M Pernice, Wafaa Eyaid, et al.
The Journal of Experimental Medicine|August 9, 2020
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammationCarla Noemi Castro, Michelle Rosenzwajg, Raphael Carapito, et al.
Human Genetics|October 13, 2020
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathyAshfaque Ahmed, Meng Wang, Gaber Bergant, et al.
European Journal of Human Genetics : EJHG|November 17, 2016
Clinical exome sequencing: results from 2819 samples reflecting 1000 familiesDaniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, et al.
European Journal of Human Genetics : EJHG|May 30, 2013
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 geneJohanna Uusimaa, Julie Evans, Conrad Smith, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Molecular autopsy in maternal-fetal medicineHanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
European Journal of Human Genetics : EJHG|August 30, 2020
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohortAida M Bertoli-Avella, Christian Beetz, Najim Ameziane, et al.
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