Concepedia
Statistics
Publications
14
Citations
1.1K
H-Index
12
Active since
2000
Affiliations
University of Utah(Current)
ARUP Laboratories (United States)
Ankara University
Intermountain Healthcare
University of Washington
Reha M. Toydemir is an author at University of Utah specializing in genetics, human genetics, and life sciences.
Publications per year
2000–2019
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
Reha M. Toydemir, Ann Rutherford, Frank G. Whitby et al. · Nature Genetics · 2006 · 286 citations
Life Sciences, Genetics, Molecular Genetics +12
A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7
Pinar Bayrak‐Toydemir, Jamie McDonald, Nurten Akarsu et al. · American Journal of Medical Genetics Part A · 2006 · 235 citations
Life Sciences, Genetics, Molecular Genetics +9
A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome
Reha M. Toydemir, Anna E. Brassington, Pınar Bayrak‐Toydemir et al. · The American Journal of Human Genetics · 2006 · 158 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Expressivity of Holt-Oram Syndrome Is Not Predicted by TBX5 Genotype
Anna-Marie E. Brassington, Sandy S. Sung, Reha M. Toydemir et al. · The American Journal of Human Genetics · 2003 · 129 citations · Full text
Life Sciences, Genetics, Molecular Genetics +7
Trismus‐pseudocamptodactyly syndrome is caused by recurrent mutation of <i>MYH8</i>
Reha M. Toydemir, Harold Chen, Virginia K. Proud et al. · American Journal of Medical Genetics Part A · 2006 · 74 citations
Life Sciences, Genetics, Molecular Genetics +8
1–5 of 14