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American Journal of Medical Genetics. Part A|July 31, 2019
Phenotype delineation of ZNF462 related syndromePaul Kruszka, Tommy Hu, Sungkook Hong, et al.Translational Psychiatry|January 31, 2019
ADGRL3 (LPHN3) variants predict substance use disorderMauricio Arcos-Burgos, Jorge I Vélez, Ariel F Martinez, et al.Brain : a Journal of Neurology|July 24, 2019
Cohesin complex-associated holoprosencephalyPaul Kruszka, Seth I Berger, Valentina Casa, et al.Clinical Dysmorphology|August 17, 2012
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysisEnrika Bartels, Anna C Schulz, Nicole W Mora, et al.Science Immunology|May 2, 2025
Distinct type I and II interferon responses direct cortical and medullary thymic epithelial cell developmentAbdulvasey Mohammed, Wenqing Wang, Martin Arreola, et al.Proceedings of the National Academy of Sciences of the United States of America|March 6, 2019
Genomic and molecular characterization of preterm birthTheo A Knijnenburg, Joseph G Vockley, Nyasha Chambwe, et al.Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|November 17, 2025
IL12RB1 deficiency appearing in North America: expanding the clinical phenotypesChen Wang, Beatriz E Marciano, Annalie J Harris, et al.Science Advances|February 4, 2020
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancerKezhi Yan, Justine Rousseau, Keren Machol, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basisKarin Weiss, Hayley P Lazar, Alina Kurolap, et al.American Journal of Medical Genetics. Part A|March 23, 2017
22q11.2 deletion syndrome in diverse populationsPaul Kruszka, Yonit A Addissie, Daniel E McGinn, et al.Pageof 29