Robert D. Steiner, M.D.
Robert D. Steiner, M.D.
Professor, University of Wisconsin and Editor in Chief, Genetics in Medicine
Verified email at - Homepage
Cited by
Cited by
Osteogenesis imperfecta
PH Byers, WG Cole
Connective tissue and its heritable disorders, 385-430, 2002
Pompe disease diagnosis and management guideline
PS Kishnani, RD Steiner, D Bali, K Berger, BJ Byrne, LE Case, ...
Genetics in Medicine 8 (5), 267-288, 2006
Mutations in the human sterol Δ7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
CA Wassif, C Maslen, S Kachilele-Linjewile, D Lin, LM Linck, WE Connor, ...
The American Journal of Human Genetics 63 (1), 55-62, 1998
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
P Harmatz, CB Whitley, L Waber, R Pais, R Steiner, B Plecko, P Kaplan, ...
The Journal of pediatrics 144 (5), 574-580, 2004
Bisphosphonate therapy for osteogenesis imperfecta
K Dwan, CA Phillipi, RD Steiner, D Basel
Cochrane Database of Systematic Reviews, 2016
Genetic counseling and screening of consanguineous couples and their offspring: recommendations of the National Society of Genetic Counselors
RL Bennett, AG Motulsky, A Bittles, L Hudgins, S Uhrich, DL Doyle, ...
Journal of genetic counseling 11 (2), 97-119, 2002
Screening and treatment for lipid disorders in children and adolescents: systematic evidence review for the US Preventive Services Task Force
EM Haney, LH Huffman, C Bougatsos, M Freeman, RD Steiner, ...
Pediatrics 120 (1), e189-e214, 2007
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects
SW Robinson, CD Morris, E Goldmuntz, MD Reller, MA Jones, RD Steiner, ...
The American Journal of Human Genetics 72 (4), 1047-1052, 2003
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant …
P Harmatz, R Giugliani, IVD Schwartz, N Guffon, EL Teles, MCS Miranda, ...
Molecular genetics and metabolism 94 (4), 469-475, 2008
Agalsidase alfa and kidney dysfunction in Fabry disease
M West, K Nicholls, A Mehta, JTR Clarke, R Steiner, M Beck, BA Barshop, ...
Journal of the American Society of Nephrology 20 (5), 1132-1139, 2009
Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study
LM Ward, F Rauch, MP Whyte, J D'astous, PE Gates, D Grogan, EL Lester, ...
The Journal of Clinical Endocrinology & Metabolism 96 (2), 355-364, 2011
The near universal presence of autism spectrum disorders in children with Smith–Lemli–Opitz syndrome
DM Sikora, K Pettit‐Kekel, J Penfield, LS Merkens, RD Steiner
American journal of medical genetics Part A 140 (14), 1511-1518, 2006
Bisphosphonate therapy for osteogenesis imperfecta
CA Phillipi, T Remmington, RD Steiner
Cochrane Database of Systematic Reviews, 2008
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith–Lemli–Opitz syndrome
CA Wassif, P Zhu, L Kratz, PA Krakowiak, KP Battaile, FF Weight, ...
Human Molecular Genetics 10 (6), 555-564, 2001
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial
N Bishop, S Adami, SF Ahmed, J Antón, P Arundel, CP Burren, ...
The Lancet 382 (9902), 1424-1432, 2013
After sex?: On writing since queer theory
J Halley, A Parker, MA Barale, M Moon, J Goldberg
Duke University Press, 2011
Klippel‐Trenaunay‐Weber syndrome associated with a 5: 11 balanced translocation
AJ Whelan, MS Watson, FD Porter, RD Steiner
American journal of medical genetics 59 (4), 492-494, 1995
Risk factors for premature ovarian failure in females with galactosemia
NV Guerrero, RH Singh, A Manatunga, GT Berry, RD Steiner, LJ Elsas II
The Journal of pediatrics 137 (6), 833-841, 2000
Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition
D Basel, RD Steiner
Genetics in medicine 11 (6), 375-385, 2009
Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis
NR Selden, A Al-Uzri, SL Huhn, TK Koch, DM Sikora, MD Nguyen-Driver, ...
Journal of Neurosurgery: Pediatrics 11 (6), 643-652, 2013
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