Rıza Köksal Özgül

Author

Rıza Köksal Özgül

Also Known As

Deniz Yüksel, K. Özgül, Koksal Ozgul, Köksal Özgül, Ozgul, RK, Ozgul, Riza Koksal, R K Ozgul, R K Özgül, R Koksal Ozgul, R Köksal Özgül

104

Publications

1.6K

Citations

H-Index

Concepts

All Affiliations

Hacettepe University Aksaray University Scientific and Technological Research Council of Turkey Hacettepe University Hospital Radboud University Nijmegen

About

Rıza Köksal Özgül is an author at Hacettepe University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	24	831
2	Cell Biology	3	3	264
3	Public Health	2	2	65
4	Health Sciences	1	1	15
5	Biology	1	1	12

Rıza Köksal Özgül

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Nature Genetics Cell AutophagyMitophagyBiallelic MutationsCerebellar AtrophyMendelian Disorder	2015	134
Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa Rıza Köksal Özgül, Anna M. Siemiatkowska, Didem Yücel, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderExome SequencingGeneticsRetinitis Pigmentosa	2011	115
STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation Sevil Oskay Halaçlı, Deniz Çağdaş, Çağman Sun-Tan, Clinical Immunology Primary ImmunodeficiencyNovel MutationImmunogeneticsAutoimmune CytopeniasAutoimmune Disease	2015	84
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey Andréa Richter, Rıza Köksal Özgül, Virginie Poisson, Neurogenetics Private Sacs MutationsMendelian DisorderGenetic DisorderGeneticsPathology	2004	60
Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients. Emel Sağlar, Doğan Yücel, Banu Bozkurt, PubMed	2009	40
Mutations in the <i>G6PC3</i> gene cause Dursun syndrome Siddharth Banka, William G. Newman, Rıza Köksal Özgül, American Journal of Medical Genetics Part A Atrial Septal DefectHeart FailureDursun SyndromeGenetic DisorderGenetics	2010	39
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening Mehmet Ali Karaca, Rıza Köksal Özgül, Özlem Ünal, European Journal of Pediatrics Genetic TestingTurkish PatientsFamily ScreeningGenetic DisorderMedicine	2015	37
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Unrelated Turkish Families K. Gücüyener, Rıza Köksal Özgül, Caroline Paternotte, Neuropediatrics Mendelian DisorderNeurological DisorderMedicineGeneticsGenetic Disorder	2001	37
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation Ali Dursun, Dilek Yalnızoğlu, Omer F. Gerdan, Clinical Dysmorphology Developmental AnomalyRare DiseasesMendelian DisorderFamily MembersGenetic Disorder	2016	36
Homozygous <i>GNAL</i> mutation associated with familial childhood-onset generalized dystonia Ikuo Masuho, Mingyan Fang, Chunyu Geng, Neurology Genetics	2016	35

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