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Nature Reviews. Endocrinology|November 19, 2016
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas, Rodrigo A Toledo, Nelly Burnichon, et al.American Journal of Human Genetics|March 9, 2010
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)Esther Meyer, Christopher Ricketts, Neil V Morgan, et al.American Journal of Human Genetics|July 12, 2011
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teethPekka Nieminen, Neil V Morgan, Aimée L Fenwick, et al.Human Molecular Genetics|May 6, 2009
X-linked cataract and Nance-Horan syndrome are allelic disordersMargherita Coccia, Simon P Brooks, Tom R Webb, et al.Gastroenterology|February 24, 2010
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)Jane Louise Hartley, Nicholas C Zachos, Ban Dawood, et al.American Journal of Medical Genetics. Part A|May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowthJennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.Journal of Clinical Immunology|January 24, 2016
Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 DeficiencyTarana Singh Dang, Joseph D P Willet, Helen R Griffin, et al.Human Mutation|August 30, 2014
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsJessica C Gardner, Gerald Liew, Ying-Hua Quan, et al.European Journal of Cancer (Oxford, England : 1990)|July 17, 2013
The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patientsSaskia M J Hopman, Johannes H M Merks, Corianne A J M de Borgie, et al.Nature Genetics|October 7, 2008
Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumorRichard H Scott, Jenny Douglas, Linda Baskcomb, et al.Pageof 63