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Current Opinion in Pediatrics|December 1, 1995
Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndromeE R Elias, M Irons
American Journal of Medical Genetics|October 21, 1999
The 3C syndrome: evolution of the phenotype and growth hormone deficiencyP G Wheeler, A Sadeghi-Nejad, E R Elias
Pacing and Clinical Electrophysiology : PACE|June 3, 1999
An interesting case of infant sudden death: severe hypertrophic cardiomyopathy in Pompe's diseaseJ D Metzl, E R Elias, C I Berul
American Journal of Medical Genetics|December 8, 1998
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiencyE R Elias, M Mobassaleh, A K Hajra, et al.
American Journal of Medical Genetics|November 6, 1995
Physical findings in 21q22 deletion suggest critical region for 21q- phenotype in q22D S Theodoropoulos, J M Cowan, E R Elias, et al.
American Journal of Medical Genetics|January 31, 1997
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)E R Elias, M B Irons, A D Hurley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 5, 2001
A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibsT Huang, E R Elias, J B Mulliken, et al.
The Italian Journal of Gastroenterology|December 1, 1995
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndromeG Salen, G S Tint, G Xu, et al.
Neurology|July 1, 1992
Causal heterogeneity in isolated lissencephalyW B Dobyns, E R Elias, A C Newlin, et al.
American Journal of Medical Genetics|January 22, 1996
Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infantJ M Milunsky, H E Wyandt, X L Huang, et al.
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