Concepedia

Seval Türkmen

ST

Statistics

Publications

33

Citations

2.1K

H-Index

23

Active since

2000

Affiliations

Charité - Universitätsmedizin Berlin(Current)

Max Planck Institute for Molecular Genetics

Humboldt-Universität zu Berlin

Vivantes Klinikum

Istanbul University

Seval Türkmen is an author at Charité - Universitätsmedizin Berlin specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

2000–2022

33

Publications

33

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Katrina Tatton‐Brown, Jenny Douglas, Kim Coleman et al. · The American Journal of Human Genetics · 2005 · 338 citations · Full text

, , +8

Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts

Olga Blau, Claudia D. Baldus, Wolf‐Karsten Hofmann et al. · Blood · 2011 · 168 citations · Full text

, , +16

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

Seval Türkmen, Gao Guo, Masoud Garshasbi et al. · PLoS Genetics · 2009 · 159 citations · Full text

, , +16

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Vishwanathan Hucthagowder, Éva Morava, Uwe Kornak et al. · Human Molecular Genetics · 2009 · 139 citations · Full text

, , +16

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

Seval Türkmen, Gabriele Gillessen‐Kaesbach, Peter Meinecke et al. · European Journal of Human Genetics · 2003 · 129 citations

, , +9

1–5 of 33