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Journal of the American College of Cardiology|February 6, 2016
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric CardiomyopathyRowida Almomani, Judith M A Verhagen, Johanna C Herkert, et al.Annals of Neurology|November 25, 2020
EIF2AK2 Missense Variants Associated with Early Onset Generalized DystoniaDemy J S Kuipers, Wim Mandemakers, Chin-Song Lu, et al.Journal of Medical Genetics|December 15, 2011
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndromeIngrid M B H van de Laar, Denise van der Linde, Edwin H G Oei, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2021
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disordersAida M Bertoli-Avella, Krishna K Kandaswamy, Suliman Khan, et al.Medrxiv : the Preprint Server for Health Sciences|August 12, 2025
<i>BLOC1S1</i> variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, et al.American Journal of Human Genetics|March 26, 2026
BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathyRaffaella De Pace, Carlos A Dominguez Gonzalez, Chad D Williamson, et al.American Journal of Human Genetics|April 10, 2026
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfismDebora Tibbe, Marie Ronja Vogt, Tess Holling, et al.Human Genetics|September 1, 2018
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)Nuria C Bramswig, Aida M Bertoli-Avella, Beate Albrecht, et al.Brain Communications|October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new casesNatalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.Nature Genetics|July 21, 2022
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosisRicardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, et al.Pageof 17