Showing results (71-80 of 161) with videos related to

Sort By:
Pageof 17
Frontiers in Molecular Neuroscience|March 3, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export FactorRaman Kumar, Elizabeth Palmer, Alison E Gardner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delayBettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
Genome Medicine|April 14, 2025
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare diseaseAlexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, et al.
The Journal of Clinical Investigation|August 18, 2015
RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeNina Bögershausen, I-Chun Tsai, Esther Pohl, et al.
American Journal of Human Genetics|February 3, 2016
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual DisabilityPaul R Kasher, Katherine E Schertz, Megan Thomas, et al.
Brain : a Journal of Neurology|February 9, 2022
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphologySiddharth Banka, Abigail Bennington, Martin J Baker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delayBettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
The Journal of Pediatrics|November 5, 2011
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropeniaKaan Boztug, Philip S Rosenberg, Marie Dorda, et al.
American Journal of Human Genetics|June 14, 2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceEmma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, et al.
Immunity|June 18, 2015
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune DiseasesBergithe E Oftedal, Alexander Hellesen, Martina M Erichsen, et al.
Pageof 17