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Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus

Journal of rheumatology, 2018-12, Vol.45 (12), p.1671-1679

2018

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Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?

Rheumatology (Oxford, England), 2021-02, Vol.60 (2), p.607-616

2021

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Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

American journal of human genetics, 2010-04, Vol.86 (4), p.551-559

2010

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Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey

Pediatric pulmonology, 2020-02, Vol.55 (2), p.383-393

2020

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Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis

Journal of clinical immunology, 2020-08, Vol.40 (6), p.934-939

2020

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Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion

Molecular biology reports, 2024-12, Vol.51 (1), p.979, Article 979

2024

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Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum

The Cleft palate-craniofacial journal, 2022-09, Vol.59 (9), p.1114-1124

2022

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Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience

Neuropediatrics, 2019-02, Vol.50 (1), p.41-45

2019

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A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy

Journal of child neurology, 2013-07, Vol.28 (7), p.926-932

2013

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Interaction between Dietary Fat Intake and Metabolic Genetic Risk Score on 25-Hydroxyvitamin D Concentrations in a Turkish Adult Population

Nutrients, 2022-01, Vol.14 (2), p.382

2022

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Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

American journal of human genetics, 2010-05, Vol.86 (5), p.789-796

2010

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Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population

Molecular vision, 2013-01, Vol.19, p.114-120

2013

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Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1888-1896

2021

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Serum PON-1 Activity but not Q192R Polymorphism is Related to the Extent of Atherosclerosis

Journal of Atherosclerosis and Thrombosis, 2012, Vol.19(4), pp.376-384

2012

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Genetic testing for DADA2: How can we avoid missing patients?

European journal of human genetics : EJHG, 2018-11, Vol.26 (11), p.1563-1565

2018

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HERC1 mutations in idiopathic intellectual disability

European journal of medical genetics, 2017-05, Vol.60 (5), p.279-283

2017

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Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects

Pediatrics international, 2014-04, Vol.56 (2), p.167-172

2014

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Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases

PSYCHIATRY INVESTIGATION, 2016, 13(4), , pp.427-433

2016

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Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy

Intractable & Rare Diseases Research, 2017/02/28, Vol.6(1), pp.61-64

2017

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Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center

American journal of perinatology, 2018-04, Vol.35 (5), p.427-433

2018

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Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis

Clinical immunology (Orlando, Fla.), 2018-02, Vol.187, p.92-94

2018

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CYP1A1 polymorphism in adolescents with polycystic ovary syndrome

International journal of gynecology and obstetrics, 2011-01, Vol.112 (1), p.8-10

2011

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Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)

Molecular syndromology, 2020-02, Vol.11 (1), p.38-42

2020

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Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

European journal of obstetrics & gynecology and reproductive biology, 2018-02, Vol.221, p.76-80

2018

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Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome

American journal of medical genetics. Part A, 2017-12, Vol.173 (12), p.3143-3152

2017

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Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus

Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey

Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis

Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum

Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience

A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy

Interaction between Dietary Fat Intake and Metabolic Genetic Risk Score on 25-Hydroxyvitamin D Concentrations in a Turkish Adult Population

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population

Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features

Serum PON-1 Activity but not Q192R Polymorphism is Related to the Extent of Atherosclerosis

Genetic testing for DADA2: How can we avoid missing patients?

HERC1 mutations in idiopathic intellectual disability

Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects

Genetic Variations in Attention Deficit Hyperactivity Disorder Subtypes and Treatment Resistant Cases

Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy

Prenatal and Postnatal Follow-up in Trisomies 13 and 18: A 20-Year Experience in a Tertiary Center

Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis

CYP1A1 polymorphism in adolescents with polycystic ovary syndrome

Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

Homozygous indel mutation in CDH11 as the probable cause of Elsahy–Waters syndrome

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