Petr Jira

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Hans R. Waterham, Frits A. Wijburg, Raoul C. M. Hennekam et al. · The American Journal of Human Genetics · 1998 · 294 citations · Full text

Mendelian Disorder, Smith-lemli-opitz Syndrome Is, Genetic Disorder +8

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Nils Krone, Nicole Reisch, Jan Idkowiak et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 163 citations · Full text

Beneficial Effects of Growth Hormone Treatment on Cognition in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study

Elbrich P. C. Siemensma, Roderick F. A. Tummers-de Lind van Wijngaarden, Dederieke A. M. Festen et al. · The Journal of Clinical Endocrinology & Metabolism · 2012 · 140 citations · Full text

Eight Years of Growth Hormone Treatment in Children With Prader-Willi Syndrome: Maintaining the Positive Effects

Nienke Bakker, Renske Kuppens, Elbrich P. C. Siemensma et al. · The Journal of Clinical Endocrinology & Metabolism · 2013 · 137 citations · Full text

Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome

Petr Jira, Ron A. Wevers, Jan de Jong et al. · Journal of Lipid Research · 2000 · 114 citations · Full text