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D Steiner

Showing results (261-270 of 356) with videos related to

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Rheumatology (Oxford, England)|February 8, 2023
A novel TNFRSF1A mutation associated with TNF-receptor-associated periodic syndrome and its metabolic signatureJoachim D Steiner, Andrea Annibal, Raymond Laboy, et al.
Human Genetics|April 21, 2015
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic dataSteven J Schrodi, Andrea DeBarber, Max He, et al.
Journal of Lipid Research|October 5, 2002
Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretionAnuradha S Pappu, Robert D Steiner, Sonja L Connor, et al.
Journal of Inherited Metabolic Disease|December 1, 2011
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)Christian J Hendriksz, Roberto Giugliani, Paul Harmatz, et al.
The Journal of Clinical Investigation|October 1, 1994
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal deathJ C Brackett, H F Sims, R D Steiner, et al.
HGG Advances|March 13, 2024
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
American Journal of Human Genetics|March 13, 2024
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
Nature Genetics|March 14, 2024
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2024
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical PublicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
JAMA|March 12, 2024
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical PublicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
Pageof 36

Showing results (261-270 of 356) with videos related to

Sort By:
Pageof 36
Rheumatology (Oxford, England)|February 8, 2023
A novel TNFRSF1A mutation associated with TNF-receptor-associated periodic syndrome and its metabolic signatureJoachim D Steiner, Andrea Annibal, Raymond Laboy, et al.
Human Genetics|April 21, 2015
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic dataSteven J Schrodi, Andrea DeBarber, Max He, et al.
Journal of Lipid Research|October 5, 2002
Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretionAnuradha S Pappu, Robert D Steiner, Sonja L Connor, et al.
Journal of Inherited Metabolic Disease|December 1, 2011
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)Christian J Hendriksz, Roberto Giugliani, Paul Harmatz, et al.
The Journal of Clinical Investigation|October 1, 1994
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal deathJ C Brackett, H F Sims, R D Steiner, et al.
HGG Advances|March 13, 2024
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
American Journal of Human Genetics|March 13, 2024
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
Nature Genetics|March 14, 2024
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2024
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical PublicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
JAMA|March 12, 2024
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical PublicationsW Gregory Feero, Robert D Steiner, Anne Slavotinek, et al.
Pageof 36