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European Journal of Endocrinology|March 26, 2014
Characterization and prevalence of severe primary IGF1 deficiency in a large cohort of French children with short statureR Teissier, I Flechtner, A Colmenares, et al.American Journal of Medical Genetics|March 10, 2001
Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndromeL Faivre, A Nivelon-Chevallier, M L Kottler, et al.European Journal of Human Genetics : EJHG|May 30, 2001
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardationL Colleaux, M Rio, S Heuertz, et al.European Journal of Human Genetics : EJHG|October 22, 1998
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasiaE Mornet, A Taillandier, S Peyramaure, et al.American Journal of Human Genetics|May 12, 2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tardaA K Gedeon, G E Tiller, M Le Merrer, et al.Cell|April 7, 1995
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathyB Franco, G Meroni, G Parenti, et al.Journal of Medical Genetics|August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) familiesM Willems, D Geneviève, G Borck, et al.Nature Genetics|September 2, 1999
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasiaJ R Hurvitz, W M Suwairi, W Van Hul, et al.Journal of Medical Genetics|January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesP de Lonlay, N Seta, S Barrot, et al.Annales De Genetique|January 1, 1997
Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)M Mathieu, C Piussan, F Thepot, et al.Pageof 29