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European Journal of Human Genetics : EJHG|September 7, 2022
Exome sequencing for structurally normal fetuses-yields and ethical issuesHagit Daum, Tamar Harel, Talya Millo, et al.Proceedings of the National Academy of Sciences of the United States of America|August 27, 2020
A mutation in POLR3E impairs antiviral immune response and RNA polymerase IIIAravind Ramanathan, Michael Weintraub, Natalie Orlovetskie, et al.Journal of Medical Genetics|December 30, 2016
Compound heterozygosity for severe and hypomorphic <i>NDUFS2</i> mutations cause non-syndromic LHON-like optic neuropathySylvie Gerber, Martina G Ding, Xavier Gérard, et al.American Journal of Medical Genetics. Part A|March 23, 2017
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathyRajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, et al.Journal of Medical Genetics|March 24, 2017
Mutations in <i>EFL1</i>, an <i>SBDS</i> partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndromePolina Stepensky, Montserrat Chacón-Flores, Katherine H Kim, et al.Blood|April 20, 2013
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancyPolina Stepensky, Ann Saada, Marianne Cowan, et al.The Journal of Clinical Endocrinology and Metabolism|December 31, 2021
PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia SyndromeMaher A Shahroor, Francesco M Lasorsa, Vito Porcelli, et al.Journal of Medical Genetics|February 9, 2013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporterSimon Edvardson, Vito Porcelli, Chaim Jalas, et al.American Journal of Human Genetics|August 5, 2017
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi DysfunctionMiroslav P Milev, Megan E Grout, Djenann Saint-Dic, et al.Journal of Clinical Immunology|June 28, 2018
T<sup>+</sup> NK<sup>+</sup> IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined ImmunodeficiencyPolina Stepensky, Baerbel Keller, Oded Shamriz, et al.Pageof 22