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Clinical Dysmorphology|November 21, 1998
Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndromeJ E Ming, J Katowitz, D M McDonald-McGinn, et al.Nature Genetics|November 4, 2000
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defectsR N Bamford, E Roessler, R D Burdine, et al.Human Molecular Genetics|January 1, 1997
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2M Oldridge, P W Lunt, E H Zackai, et al.Journal of Medical Genetics|June 21, 2005
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 geneL Van Maldergem, H A Siitonen, N Jalkh, et al.Nature Genetics|November 14, 1997
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22N A Quaderi, S Schweiger, K Gaudenz, et al.Nature Genetics|November 1, 1996
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephalyE Belloni, M Muenke, E Roessler, et al.Human Molecular Genetics|September 25, 1997
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22G J Feldman, D E Ward, E Lajeunie-Renier, et al.Journal of Medical Genetics|January 7, 2005
Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndromeJ D Hoffman, Y Zhang, J Greshock, et al.American Journal of Medical Genetics|May 8, 2000
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprintingJ E Ming, N Blagowidow, J H Knoll, et al.Human Molecular Genetics|February 1, 1996
Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21U Schell, J Wienberg, A Köhler, et al.Pageof 12