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Pediatric Blood & Cancer|September 26, 2008
Management of Wilms tumors in Drash and Frasier syndromesF Auber, C Jeanpierre, E Denamur, et al.Clinical Endocrinology|June 1, 1994
Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequencesC Boucekkine, J E Toublanc, N Abbas, et al.Human Pathology|November 9, 2000
Anti-Müllerian hormone is a specific marker of sertoli- and granulosa-cell origin in gonadal tumorsR Rey, J C Sabourin, M Venara, et al.Human Mutation|May 2, 2008
Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlationC Crétolle, A Pelet, D Sanlaville, et al.British Journal of Haematology|February 1, 1990
CD30-positive large cell lymphomas ('Ki-1 lymphoma') are associated with a chromosomal translocation involving 5q35D Y Mason, C Bastard, R Rimokh, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|December 31, 2002
Persistence of Müllerian remnants in complete androgen insensitivity syndromeD Damiani, M A Mascolli, M J Almeida, et al.Genes and Immunity|May 17, 2014
Utility of temporal artery biopsy samples for genome-wide analysis of giant cell arteritisK Cremin, P Leo, J E Harris, et al.Journal of Medical Genetics|January 31, 2006
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locusL de Pontual, A Pelet, D Trochet, et al.Nature Genetics|December 17, 1997
Donor splice-site mutations in WT1 are responsible for Frasier syndromeS Barbaux, P Niaudet, M C Gubler, et al.Molecular Genetics and Metabolism|October 20, 2007
Development of liver disease despite mannose treatment in two patients with CDG-IbK Mention, F Lacaille, V Valayannopoulos, et al.Pageof 25