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Human Heredity|January 1, 1996
BalI and MspI polymorphisms of the dopamine D3 receptor gene in African Blacks and CaucasiansM A Crocq, A Buguet, S Bisser, et al.
Bone|December 7, 2017
Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralizationK M Roetzer, G Uyanik, A Brehm, et al.
Neuropediatrics|July 13, 2004
Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox geneH Hartmann, G Uyanik, C Gross, et al.
Neurology|January 13, 2010
Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathiesM Lommel, S Cirak, T Willer, et al.
Neuropediatrics|June 15, 2006
Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosumA Olmez, G Uyanik, R K Ozgül, et al.
Neurology|April 12, 2006
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndromeG Uyanik, N Elcioglu, J Penzien, et al.
American Journal of Medical Genetics|February 16, 1996
Dopamine D3 receptor gene: organization, transcript variants, and polymorphism associated with schizophreniaN Griffon, M A Crocq, C Pilon, et al.
Neurology|January 29, 2003
Somatic mosaicism and variable penetrance in doublecortin-associated migration disordersL Aigner, G Uyanik, S Couillard-Despres, et al.
Clinical Genetics|October 29, 2008
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephalyD J Morris-Rosendahl, J Najm, A M A Lachmeijer, et al.
Neurology|August 1, 2007
Location and type of mutation in the LIS1 gene do not predict phenotypic severityG Uyanik, D J Morris-Rosendahl, J Stiegler, et al.
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