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Human Genetics|January 5, 2007
A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34B Isidor, N Dagoneau, C Huber, et al.Clinical Genetics|May 5, 2017
ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegiaM Nizon, S Küry, Y Péréon, et al.Molecular Syndromology|April 10, 2014
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 DeletionsC Dubourg, F Bonnet-Brilhault, A Toutain, et al.Clinical Genetics|July 3, 2013
Coffin-Siris syndrome is a SWI/SNF complex disorderY Tsurusaki, N Okamoto, H Ohashi, et al.American Journal of Medical Genetics. Part A|June 24, 2025
An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical RecommendationsE Woods, N Holmes, A S Denommé-Pichon, et al.Journal of Medical Genetics|June 15, 2010
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemiaB Pérez, F Mechinaud, C Galambrun, et al.Neurology|September 23, 2009
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutationsS Passemard, L Titomanlio, M Elmaleh, et al.Scientific Reports|December 3, 2017
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patientsD Baux, C Vaché, C Blanchet, et al.International Journal of Pediatric Otorhinolaryngology|June 19, 2023
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter reviewL Rhamati, A Marcolla, A M Guerrot, et al.BMC Health Services Research|April 21, 2023
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French settingA L Soilly, C Robert-Viard, C Besse, et al.Pageof 3