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American Journal of Medical Genetics. Part A|May 25, 2013
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruptionAlex R Paciorkowski, Kim Keppler-Noreuil, Luther Robinson, et al.European Journal of Human Genetics : EJHG|April 7, 2021
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasiaShereen G Ghosh, Martin W Breuss, Zinayida Schlachetzki, et al.Nature Communications|July 9, 2020
Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repairHana Hanzlikova, Evgeniia Prokhorova, Katerina Krejcikova, et al.American Journal of Medical Genetics. Part A|February 26, 2004
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromesJoseph G Gleeson, Lesley C Keeler, Melissa A Parisi, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|October 30, 2020
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorderMaha S Zaki, Mahmoud Y Issa, Manal M Thomas, et al.Proceedings of the National Academy of Sciences of the United States of America|March 27, 2013
CCDC41 is required for ciliary vesicle docking to the mother centrioleKwangsic Joo, Chang Gun Kim, Mi-Sun Lee, et al.American Journal of Human Genetics|October 7, 2004
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyriaTracy Dixon-Salazar, Jennifer L Silhavy, Sarah E Marsh, et al.Journal of Molecular Neuroscience : MN|October 4, 2024
Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related DystrophyWessam E Sharaf-Eldin, Karima Rafat, Mahmoud Y Issa, et al.American Journal of Medical Genetics. Part A|March 23, 2016
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 geneRasim O Rosti, Esra Dikoglu, Maha S Zaki, et al.Annals of Neurology|May 1, 2016
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thriveMaha S Zaki, Gifty Bhat, Tipu Sultan, et al.Pageof 31