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Molecular Endocrinology (Baltimore, Md.)|November 7, 1999
New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotypeP Touraine, I Beau, A Gougeon, et al.Annals of the Rheumatic Diseases|December 3, 2005
EULAR/PReS endorsed consensus criteria for the classification of childhood vasculitidesS Ozen, N Ruperto, M J Dillon, et al.Clinical Genetics|October 12, 2001
Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotypeG Joly, J M Lapierre, C Ozilou, et al.American Journal of Human Genetics|August 19, 2007
Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypesE Aït Yahya-Graison, J Aubert, L Dauphinot, et al.Bone Marrow Transplantation|August 22, 2003
Long-term follow-up of autologous stem cell transplantation for refractory juvenile idiopathic arthritisN M Wulffraat, D Brinkman, A Ferster, et al.Journal of Medical Genetics|January 16, 1998
Features of DiGeorge syndrome and CHARGE association in five patientsP de Lonlay-Debeney, V Cormier-Daire, J Amiel, et al.Annales De Biologie Clinique|March 30, 2004
[A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances]J-M Lapierre, D Sanlaville, J Kang, et al.Prenatal Diagnosis|June 22, 2000
Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann featuresS Fert-Ferrer, A Guichet, J Tantau, et al.Archives of Ophthalmology (Chicago, Ill. : 1960)|October 13, 2000
Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhoodH Dollfus, R Häfner, H M Hofmann, et al.Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.Pageof 19