Concepedia

G. Uyanık

GU

Statistics

Publications

9

Citations

423

H-Index

9

Active since

2003

Affiliations

University of Regensburg(Current)

Diakonie Kork

University Hospital Regensburg

Hacettepe University

G. Uyanık is an author at University of Regensburg specializing in neurogenetic disorders, genetics, and medical genetics.

ORCID

Publications per year

2003–2008

9

Publications

9

Refining the phenotype of <i>α‐1a Tubulin </i>(<i>TUBA1A</i>) mutation in patients with classical lissencephaly

DJ Morris‐Rosendahl, Juliane Najm, A.M.A. Lachmeijer et al. · Clinical Genetics · 2008 · 93 citations

, , +17

ARX mutations in X-linked lissencephaly with abnormal genitalia

G. Uyanık, Ludwig Aigner, Peter Martin et al. · Neurology · 2003 · 88 citations

, , +16

Novel truncating and missense mutations of the <i>KCC3</i> gene associated with Andermann syndrome

G. Uyanık, Nursel Elçioğlu, Johannes Penzien et al. · Neurology · 2006 · 66 citations · Full text

, , +17

Location and type of mutation in the <i>LIS1</i> gene do not predict phenotypic severity

G. Uyanık, Déborah Morris-Rosendahl, J. Stiegler et al. · Neurology · 2007 · 46 citations

, , +17

Somatic mosaicism and variable penetrance in <i>doublecortin</i> -associated migration disorders

Ludwig Aigner, G. Uyanık, Sébastien Couillard‐Després et al. · Neurology · 2003 · 35 citations

, , +17

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