About: Robert D. Steiner

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medical geneticist and clinical professor

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rdf:type	Item
description	բժշկական գենետիկ և կլինիկական պրոֆեսոր (hy) медицинский генетик и клинический профессор (ru) גנטיקאי רפואי ופרופסור קליני (he) genetista medico e professore clinico (it) gjenetist mjekësor dhe profesor klinik (sq) généticien médical et professeur clinicien (fr) medical geneticist and clinical professor (en) medicinski genetik in klinični profesor (sl) medisch geneticus en klinisch professor (nl) medizinischer Genetiker und klinischer Professor (de) médico geneticista e professor clínico (pt) médico genetista y profesor clínico (es) tıbbi genetikçi ve klinik profesör (tr) চিকিৎসা জেনেটিসিস্ট এবং ক্লিনিকাল অধ্যাপক (bn) മെഡിക്കൽ ജനിതകശാസ്ത്രജ്ഞനും ക്ലിനിക്കൽ പ്രൊഫസറും (ml) 医学遺伝学者および臨床教授 (ja) 醫學遺傳學家和臨床教授 (zh) 의학 유전학자 및 임상 교수 (ko)
rdfs:label	Robert D. Steiner (en) Robert D. Steiner (es) Robert D. Steiner (it) Robert D. Steiner (nl) Robert D. Steiner (sl) Robert D. Steiner (ast)
skos:prefLabel	Robert D. Steiner (en) Robert D. Steiner (es) Robert D. Steiner (it) Robert D. Steiner (nl) Robert D. Steiner (sl) Robert D. Steiner (ast)
name	Robert D. Steiner (en) Robert D. Steiner (es) Robert D. Steiner (it) Robert D. Steiner (nl) Robert D. Steiner (sl) Robert D. Steiner (ast)
Scopus author ID	wds:Q38325378-BE0132F6-8486-44E9-810F-0D140943652D
Scopus author ID	7402618764
given name	wds:Q38325378-85255383-1EF3-4613-9448-ADD20E1B7516
given name	Robert
instance of	wds:Q38325378-1695868A-670F-4A34-9B79-0C99D6C581AB
instance of	Homo sapiens
skos:altLabel	Robert Steiner (en)
occupation	wds:Q38325378-475ecf8e-4f9a-0791-45b2-47f1d2ac6c25 wds:Q38325378-83FED103-01DF-4072-B575-541CDA8515D9 wds:Q38325378-e13d4a10-4ac7-7382-4da5-9dcfdd7346fa
employer	wds:Q38325378-4CF6F8ED-A1DB-4798-8075-76F3F1E7A494 wds:Q38325378-EACA46E5-856C-4784-9FFE-271688B05C7E
sex or gender	wds:Q38325378-88BD3104-2406-4E6F-BB5F-FEB232FD4449
educated at	wds:Q38325378-2094B477-4520-4BB1-916B-781371BD1FCF wds:Q38325378-B46A637F-0D94-439D-A0CF-66818B230571
family name	wds:Q38325378-CA319733-58AF-46F7-89FE-8F42172C2D90
occupation	professor of practice pediatrician medical geneticist
employer	University of Wisconsin–Madison Marshfield Clinic
sex or gender	male
educated at	University of Wisconsin–Madison
family name	Steiner
Springer Nature person ID	wds:Q38325378-0AD1BECE-7383-4872-8ABD-3DC8846AD8EF
ORCID iD	wds:Q38325378-9F7DEFF0-4FD8-492C-B429-2EC842930A24
Dimensions author ID	wds:Q38325378-E663F451-604B-4006-939E-44570C1D1F1A
ORCID iD	https://orcid.org/0000-0003-4177-4590
Springer Nature person ID	011470761212.86
ORCID iD	0000-0003-4177-4590
Dimensions author ID	011470761212.86
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q38325378
is author of	Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Ophthalmic drops causing coma in an infant. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV) Bisphosphonate therapy for osteogenesis imperfecta Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects Liquid chromatography-tandem mass spectrometry determination of plasma 24S-hydroxycholesterol with chromatographic separation of 25-hydroxycholesterol Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development. Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. In Vitro Incubation with Influenza Virus Primes Human Polymorphonuclear Leukocyte Generation of Superoxide The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. ESI-MS/MS quantification of 7alpha-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta Mutations in γ adducin are associated with inherited cerebral palsy. Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy

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