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Neurology
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March 12, 2003
Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency
P C Goldenberg, R D Steiner, L S Merkens, et al.
American Journal of Medical Genetics
|
September 20, 2000
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping
P A Krakowiak, N A Nwokoro, C A Wassif, et al.
Journal of Inherited Metabolic Disease
|
November 17, 2007
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome
E J Hager, H M Tse, J D Piganelli, et al.
Human Molecular Genetics
|
March 7, 2001
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome
C A Wassif, P Zhu, L Kratz, et al.
Prenatal Diagnosis
|
March 17, 2000
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi
L M Linck, S J Hayflick, D S Lin, et al.
Journal of Medical Genetics
|
April 5, 2005
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome
L S Correa-Cerro, C A Wassif, J S Waye, et al.
Pediatric Research
|
June 1, 2000
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism
K M Gibson, T G Burlingame, B Hogema, et al.
Clinical Genetics
|
April 24, 2014
A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers
R M Patel, S C S Nagamani, D Cuthbertson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 2, 2015
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta
S Bellur, M Jain, D Cuthbertson, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 26, 2010
Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study
L M Ward, F Rauch, M P Whyte, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 41) with videos related to
Sort By:
Page
of 5
Neurology
|
March 12, 2003
Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency
P C Goldenberg, R D Steiner, L S Merkens, et al.
American Journal of Medical Genetics
|
September 20, 2000
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping
P A Krakowiak, N A Nwokoro, C A Wassif, et al.
Journal of Inherited Metabolic Disease
|
November 17, 2007
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome
E J Hager, H M Tse, J D Piganelli, et al.
Human Molecular Genetics
|
March 7, 2001
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome
C A Wassif, P Zhu, L Kratz, et al.
Prenatal Diagnosis
|
March 17, 2000
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi
L M Linck, S J Hayflick, D S Lin, et al.
Journal of Medical Genetics
|
April 5, 2005
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome
L S Correa-Cerro, C A Wassif, J S Waye, et al.
Pediatric Research
|
June 1, 2000
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism
K M Gibson, T G Burlingame, B Hogema, et al.
Clinical Genetics
|
April 24, 2014
A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers
R M Patel, S C S Nagamani, D Cuthbertson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 2, 2015
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta
S Bellur, M Jain, D Cuthbertson, et al.
The Journal of Clinical Endocrinology and Metabolism
|
November 26, 2010
Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study
L M Ward, F Rauch, M P Whyte, et al.
Page
of 5