Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 1, 2018
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic dataKristin McDonald Gibson, Addie Nesbitt, Kajia Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic dataKristin McDonald Gibson, Addie Nesbitt, Kajia Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 2, 2018
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic dataKristin McDonald Gibson, Addie Nesbitt, Kajia Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing lossSarah Sheppard, Sawona Biswas, Mindy H Li, et al.
American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.
Kidney International|February 20, 2026
Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney diseaseChaozhe Yang, Naoe Harafuji, Jacob A Watts, et al.
American Journal of Human Genetics|June 18, 2021
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylationDaniel L Polla, Andrew C Edmondson, Sandrine Duvet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2017
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centersRashesh V Sanghvi, Christian J Buhay, Bradford C Powell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratoriesJulianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
American Journal of Human Genetics|July 8, 2017
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial FeaturesCara M Skraban, Constance F Wells, Preetha Markose, et al.
Pageof 5