Memnune Yüksel Apak

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

Xinping Zhao, David M. Alvarado, Shirley Rainier et al. · Nature Genetics · 2001 · 359 citations

Life Sciences, Genetics, Neurology +10

Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children

İlmay Bilge, Hülya Kayserili, Sevinç Emre et al. · Pediatric Nephrology · 2000 · 79 citations

Medicine, Nephrology, Pediatrics +16

CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children

Firdevs Baş, Hülya Kayserili, Feyza Darendelıler et al. · Journal of Clinical Research in Pediatric Endocrinology · 2009 · 46 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)

Tuncer Onay, O. Topaloglu, Julian Zielenski et al. · Human Genetics · 1998 · 43 citations

Life Sciences, Genetics, Molecular Genetics +11

Unusual molecular findings in autosomal recessive spinal muscular atrophy.

Gert Matthijs, Els Schollen, Eric Legius et al. · Journal of Medical Genetics · 1996 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17