| Document Date: 2013-07-18 03:03:03
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City Innsbruck / Heidelberg / Bristol / / Company Kraft / 2Bristol Genetics Laboratory / Macmillan Publishers Limited / / Continent Europe / / Country Austria / United States / Italy / United Kingdom / Spain / / / Event Product Issues / / Facility Institute of Human Genetics / Medical University / / IndustryTerm biochemical carrier testing / carrier frequency / carrier testing / gas chromatography/mass spectrometry / / MedicalCondition autosomal recessive metabolic malformation/mental retardation syndrome / newly recognized syndrome / SmithLemli-Opitz syndrome / syndactyly / disease / polyneuropathy and precocious puberty / SLO Syndrome / autism / Mutational spectrum The Smith-Lemli-Opitz syndrome / polyneuropathy / holoprosencephaly / Lethal Acrodysgenital Syndrome / profound mental retardation / disorder / Polydactyly / Smith-Lemli-Opitz Syndrome / MS / RSH Syndrome / syndrome / Lethal Multiple Congenital Anomaly Syndrome / Will disease / / Organization Institute of Human Genetics / European Society of Human Genetics / NHS / / Person Birth / Martina Witsch-Baumgartner / / / Position Porter / / Product simvastatin / synthesis / cholesterol biosynthesis / / ProgrammingLanguage php / / PublishedMedium European Journal of Human Genetics / / Technology DNA sequencing / http / gas chromatography / transplantation / genotype / / URL www.hgmd / http /
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Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]