Showing results (941-950 of 967) with videos related to

Sort By:
Pageof 97
American Journal of Human Genetics|May 11, 2023
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophyJoel A Morales-Rosado, Tanya L Schwab, Sarah K Macklin-Mantia, et al.
Journal of Medical Genetics|November 24, 2021
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, et al.
European Journal of Human Genetics : EJHG|January 22, 2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizuresMarkus Zweier, Anaïs Begemann, Kirsty McWalter, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeSeema R Lalani, Jing Zhang, Christian P Schaaf, et al.
British Journal of Clinical Pharmacology|August 11, 2023
Adverse drug events caused by three high-risk drug-drug interactions in patients admitted to intensive care units: A multicentre retrospective observational studyJoanna E Klopotowska, Jan-Hendrik Leopold, Tinka Bakker, et al.
Neuron|November 21, 2020
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with MicrocephalyGuoliang Chai, Alice Webb, Chen Li, 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.
American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.
Influenza and Other Respiratory Viruses|March 28, 2025
Avian Influenza Virus Surveillance Across New Zealand and Its Subantarctic Islands Detects H1N9 in Migratory Shorebirds, but Not 2.3.4.4b HPAI H5N1Stephanie J Waller, Janelle R Wierenga, Lia Heremia, et al.
Genome Medicine|March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndromeFrancesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Pageof 97