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American Journal of Human Genetics|September 6, 2001
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticumO Le Saux, K Beck, C Sachsinger, et al.International Journal of Cancer|July 29, 2011
Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomasAnnelies Fieuw, Candy Kumps, Alexander Schramm, et al.Leukemia|January 28, 2005
A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemiasF Speleman, B Cauwelier, N Dastugue, et al.Human Mutation|March 17, 2010
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletionsB D'haene, J Nevado, M Pugeat, et al.Nucleic Acids Research|February 21, 1998
Marfan Database (third edition): new mutations and new routines for the softwareG Collod-Béroud, C Béroud, L Ades, et al.American Journal of Human Genetics|April 16, 1998
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrumM D Briggs, G R Mortier, W G Cole, et al.Journal of Medical Genetics|February 24, 2006
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reportsB Menten, N Maas, B Thienpont, et al.Clinical Genetics|August 2, 2011
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthoodM Klaassens, E Reinstein, Y Hilhorst-Hofstee, et al.Journal of Medical Genetics|September 13, 2005
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 geneK P Hoornaert, C Dewinter, I Vereecke, et al.Science Translational Medicine|April 9, 2010
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndromeB L Loeys, E E Gerber, D Riegert-Johnson, et al.Pageof 15