about
Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic diseaseDiscovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicineThe phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in TurkeyMicroarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.Novel Alu retrotransposon insertion leading to Alström syndromeHomozygous GNAL mutation associated with familial childhood-onset generalized dystonia.Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patientsAllergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children.Isovaleric acidemia presenting as diabetic ketoacidosis: a case report.Haplotype analysis of non-HLA immunogenetic loci in Turkish and worldwide populations.Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.A New Chapter for Mesenchymal Stem Cells: Decellularized Extracellular Matrices.A patient with mitochondrial disorder due to a novel mutation in MRPS22.Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four.Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome.A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.Mutations in the G6PC3 gene cause Dursun syndrome.Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from TurkeyEvaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type IErratum: The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in TurkeyMCP12518 A/G polymorphism affects progression of childhood focal segmental glomerulosclerosisPolymorphisms in FAS and CASP8 genes may contribute to the development of ALPS phenotype: a study in 25 patients with probable ALPSGenome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 GenesPhenotypic and genotypic spectrum of Turkish patients with isovaleric acidemiaDursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell LinesAssociation of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish PatientsFamilial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvementMyocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma
P50
Q24642199-3DA2CE07-06DC-4014-B5DA-E67248DFE138Q28073248-22166634-C61F-4776-A339-259D0074936AQ33768990-5FA3E806-0701-41F5-B41D-D49FE1ECC1CEQ34283724-E7F72815-2042-43F6-9709-2AB7249AF5C3Q34322279-16CAC020-4AC6-4913-8CE9-989FB249D7EAQ35161651-9D14CCF7-C35E-4BD6-A510-4CF2C19ED5CDQ35691014-05ECFC47-9151-4E5F-9934-6195E571C59DQ36900089-9465E4F1-BCCC-4FAC-A103-7DE4EFCD191DQ37183414-E50E8A16-BDC0-472B-8089-B9DF64FCBF6DQ37248285-09B1FB2A-1194-4272-BF0D-0BAC782A779AQ37254264-EC1F6AF9-AA65-4844-8DB1-4EECE0106DF0Q37702793-74317AA3-B16D-4A6F-9CEE-3857C298ABF1Q39808798-98BFD488-FE2F-4F6A-ACBE-F17DA35D8081Q41779087-4F5470E7-7881-4EF1-A8D1-2DD7BE5E6B42Q44578175-5989B56F-08A2-423A-AF4A-16B4A0DC59E8Q44771777-A1C75592-99F7-4C74-B3F1-600F762D9C30Q45716088-EBE82682-4CA9-4A5E-BD9D-5462D4001381Q45986795-8C699EE7-C123-4DE4-AE9D-F0406D3C82E4Q47854701-12AA6E0C-3D76-46D8-8C52-1AE3BB67624CQ48175983-96D6C0E6-8268-4D97-8BA1-01F95033868AQ48289340-B96528A2-0B5D-4232-A611-9BC648BCDB86Q48497340-9FCA160C-3563-4418-BA46-B170FF7A7615Q48731594-2625F50C-A220-49FA-9820-071843EAF196Q49104980-0B20219B-700B-4A1B-93FA-0C3D08936EEBQ50455713-C009CFF5-90E7-43DA-9A86-36C6D7AA0AFCQ50491599-18A3D28D-38FF-4BEE-A1C1-C3BCED7B9AAFQ50921900-BD0BA154-618F-4CDF-A9E6-F23C71B18DE3Q54310386-DF6AA755-B132-478B-9817-196E3731CEA3Q55053358-6117C9BE-5B9A-48B2-87CB-790C67EBC0BAQ59698160-A28F6F3B-85D0-423B-BD05-E3067EC73D9DQ59698162-1C13AABA-EC86-4DFB-8091-247F9C13587DQ59698163-79C368E4-567D-4ABE-86C0-7DFF7C2E4942Q59698167-33FC37F4-A9FB-43B9-AA6F-519C87840284Q59698169-68902EA0-40FA-4C50-A60D-132E431D9023Q59698170-F4E86B9C-8BF0-4423-87EF-3E0819D2BE21Q59698171-6D53E9E9-9160-4755-8F25-60ADBFD7B704Q59698172-16D37C8F-5620-4ED7-9DB9-37B72694AB1BQ59698176-6CDD06FB-2AB2-4CA7-B9E8-2F9EB2E09455Q59698179-5AF8D6BC-6A41-45BC-A021-5F0B5A91D6ABQ59698181-635B1AF1-53DA-4876-BB20-F1916993C98C
P50
description
researcher ORCID ID = 0000-0002-0283-635X
@en
wetenschapper
@nl
name
Riza Koksal Ozgul
@ast
Riza Koksal Ozgul
@en
Riza Koksal Ozgul
@es
Riza Koksal Ozgul
@nl
type
label
Riza Koksal Ozgul
@ast
Riza Koksal Ozgul
@en
Riza Koksal Ozgul
@es
Riza Koksal Ozgul
@nl
prefLabel
Riza Koksal Ozgul
@ast
Riza Koksal Ozgul
@en
Riza Koksal Ozgul
@es
Riza Koksal Ozgul
@nl
P106
P31
P496
0000-0002-0283-635X