Concepedia
Statistics
Publications
99
Citations
7.5K
H-Index
42
Active since
1997
Affiliations
Hacettepe University(Current)
Hacettepe University Hospital
Inserm
Institut de Myologie
University College London
Beril Talim is an author at Hacettepe University specializing in genetics, muscular dystrophy, and life sciences.
Publications per year
1997–2022
Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1
Aruto Yoshida, Kazuhiro Kobayashi, Hiroshi Manya et al. · Developmental Cell · 2001 · 710 citations · Full text
Life Sciences, Genetics, Molecular Genetics +14
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 440 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 365 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
Klaus Gempel, Haluk Topaloğlu, Beril Talim et al. · Brain · 2007 · 319 citations · Full text
Life Sciences, Biochemistry, Genetics +17
A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy
Yuji Hara, Burcu Balcı-Hayta, Takako Yoshida‐Moriguchi et al. · New England Journal of Medicine · 2011 · 283 citations · Full text
Life Sciences, Biochemistry, Molecular Biology +17
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