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American Journal of Medical Genetics. Part A|May 30, 2025
Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing SynpolydactylyJonathan Rips, Rivka Birnbaum, Chaim Jalas, et al.European Journal of Human Genetics : EJHG|December 17, 2020
A human case of GIMAP6 deficiency: a novel primary immune deficiencyBella Shadur, Nathalie Asherie, Shlomit Kfir-Erenfeld, et al.Human Molecular Genetics|April 21, 2020
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomaliesTamar Harel, John N Griffin, Thomas Arbogast, et al.Frontiers in Pediatrics|June 3, 2022
A Novel Homozygous Missense Variant in the <i>LRRC32</i> Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental DelayZufit Hexner-Erlichman, Boris Fichtman, Yoav Zehavi, et al.Journal of Child Neurology|September 25, 2002
Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletionYoram Nevo, Dov Soffer, Miriam Kutai, et al.European Journal of Medical Genetics|April 16, 2018
MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth diseaseJonathan Rips, Rebecca Meyer-Schuman, Oded Breuer, et al.American Journal of Human Genetics|January 25, 2011
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndromeRuth Belostotsky, Efrat Ben-Shalom, Choni Rinat, et al.American Journal of Medical Genetics. Part A|October 13, 2011
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)Ziva Ben-Neriah, Rachel Michaelson-Cohen, Michal Inbar-Feigenberg, et al.American Journal of Human Genetics|December 11, 2008
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystoniaSimon Edvardson, Hiroko Hama, Avraham Shaag, et al.Journal of Medical Genetics|September 14, 2013
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposisSimon Edvardson, Angel Ashikov, Chaim Jalas, et al.Pageof 22