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European Journal of Pediatrics|August 17, 2011
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutationAna-Maria Calinescu-Tuleasca, Armand Bottani, Anne-Laure Rougemont, et al.American Journal of Medical Genetics. Part A|July 17, 2008
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patientsDanielle Martinet, Isabel Filges, Nathalie Besuchet Schmutz, et al.American Journal of Human Genetics|December 13, 2006
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1Mohammed Naveed, Swapan K Nath, Mathew Gaines, et al.American Journal of Medical Genetics. Part A|June 21, 2017
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsyEmmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, et al.Journal of Human Genetics|May 3, 2018
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected motherNelle Lambert, Corinne Dauve, Emmanuelle Ranza, et al.American Journal of Medical Genetics. Part A|January 17, 2012
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1Estelle Lopez, Patrick Callier, Valérie Cormier-Daire, et al.Journal of Medical Genetics|January 22, 2013
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndromeVirginie Bubien, Françoise Bonnet, Veronique Brouste, et al.American Journal of Human Genetics|August 22, 2020
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and EpilepsyJonathan Humbert, Smrithi Salian, Periklis Makrythanasis, et al.Brain : a Journal of Neurology|December 20, 2019
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanismsVincent Huin, Mathieu Barbier, Armand Bottani, et al.American Journal of Human Genetics|April 17, 2007
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Christiane Zweier, Maarit M Peippo, Juliane Hoyer, et al.Pageof 5