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American Journal of Human Genetics|June 19, 1998
Mutation analysis of UBE3A in Angelman syndrome patientsP Malzac, H Webber, A Moncla, et al.American Journal of Medical Genetics|January 1, 1987
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethalityC J Curry, J C Carey, J S Holland, et al.Clinical Pediatrics|April 18, 1998
CHARGE association: an update and review for the primary pediatricianK D Blake, S L Davenport, B D Hall, et al.American Journal of Medical Genetics|February 1, 1989
Diagnostic criteria for Walker-Warburg syndromeW B Dobyns, R A Pagon, D Armstrong, et al.Human Genetics|August 1, 1989
Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probeM A Cantrell, J N Bicknell, R A Pagon, et al.The Journal of Clinical Endocrinology and Metabolism|July 1, 1996
Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadismW Guo, T P Burris, Y H Zhang, et al.Human Genetics|January 1, 1981
The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical pictureA Schinzel, W Schmid, M Fraccaro, et al.American Journal of Human Genetics|September 1, 1994
Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypesR E Schnur, P A Wick, C Bailey, et al.American Journal of Human Genetics|March 1, 1985
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndromeU Francke, H D Ochs, B de Martinville, et al.Pediatric Dermatology|December 1, 1993
Severe skin erosions and scalp infections in AEC syndromeS L Vanderhooft, M J Stephan, V P SybertPageof 9