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Genetic IGF1R defects: new cases expand the spectrum of clinical features

Journal of endocrinological investigation, 2020-12, Vol.43 (12), p.1739-1748

2020

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Diagnostic yield of microarrays in individuals with non‐syndromic developmental delay and intellectual disability

Journal of intellectual disability research, 2021-12, Vol.65 (12), p.1033-1048

2021

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A novel variant in severe disease of DADA2: involving vasculitic and haematologic features

Scandinavian journal of rheumatology, 2023-01, Vol.52 (1), p.93-95

2023

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Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability

Journal of intellectual disability research, 2021-06, Vol.65 (6), p.577-588

2021

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An eight‐case 1q21 region series: novel aberrations and clinical variability with new features

Journal of intellectual disability research, 2019-06, Vol.63 (6), p.548-557

2019

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Café noir spots: a feature of familial progressive hyper‐ and hypopigmentation

Journal of the European Academy of Dermatology and Venereology, 2020-02, Vol.34 (2), p.e76-e77

2020

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Impact of Fat Mass and Obesity Associated (FTO) Gene Variants and Lifestyle Factors on Obesity Traits in A Turkish Population

Proceedings of the Nutrition Society, 2019, Vol.78 (OCE2), Article E48

2019

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Nonsense mutation dystrophinopathy: How mutation-specific treatments changed our clinical practice?

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S253-S253

2015

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Expanding the pathological phenotype in megaconial congenital muscular dystrophy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S206-S206

2015

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Solving a puzzle: Incidentally detected high creatine kinase level combined with a family history of cardiomyopathy and sudden unexplained death leading to diagnosis of LMNA mutation

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S138-S139

2016

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Congenital myasthenic syndrome due to COLQ mutations: Clues for diagnosis

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S112-S112

2016

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Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay

American journal of neuroradiology : AJNR, 2013-10, Vol.34 (10), p.1952-1957

2013

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Rare variant analysis in CAD related loci in patients with premature CAD reveals possible targets for further functional studies

Atherosclerosis, 2023-08, Vol.379, p.S137

2023

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Identification of point mutations and large rearrangements in the BRCA1 gene in 667 Turkish unselected ovarian cancer patients

Gynecologic oncology, 2010-10, Vol.119 (1), p.131-135

2010

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TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME

Genetic counseling, 2016-01, Vol.27 (3), p.357

2016

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Violent behaviour among Turkish high school students and correlates of physical fighting

European journal of public health, 2004-06, Vol.14 (2), p.173-177

2004

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A multidisciplinary approach to the management of individuals with fragile X syndrome

Journal of intellectual disability research, 2007-02, Vol.51 (2), p.151-161

2007

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Parental factors in prenatal decision making and the impact of prenatal genetic counseling: a study on Turkish families

Genetic counseling, 2014, Vol.25 (1), p.53

2014

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A case series of adenosine deaminase 2 deficient patients emphasizing treatment and genotype-phenotype correlations

Pediatric rheumatology online journal, 2015-09, Vol.13 (Suppl 1), p.P62-P62, Article P62

2015

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Tumour necrosis factor α G→A −238 and G→A −308 polymorphisms in juvenile idiopathic arthritis

Rheumatology (Oxford, England), 2002-02, Vol.41 (2), p.223-227

2002

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Influence of Bacillus Calmette-Guèrin vaccination at birth and 2 months old age on the peripheral blood T-cell subpopulations [gamma/delta (γδ) and alpha-beta (αβ) T cell]

Pediatric allergy and immunology, 2005-12, Vol.16 (8), p.624-629

2005

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CYP1A1 gene polymorphism and risk of endometrial hyperplasia and endometrial carcinoma

International journal of gynecological cancer, 2006-05, Vol.16 (3), p.1407-1411

2006

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Implications of certain genetic polymorphisms in scarring in vesicoureteric reflux: Importance of ace polymorphism

American journal of kidney diseases, 1999-07, Vol.34 (1), p.140-145

1999

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Opinions of Turkish physicians towards termination of pregnancy for fetal disorders

Genetic counseling, 2011-01, Vol.22 (4), p.401

2011

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Thermolabile methylenetetrahydrofolate reductase enzyme genotype is frequent in type 2 diabetic patients with normal fasting homocysteine levels

Journal of internal medicine, 2005-05, Vol.257 (5), p.446-453

2005

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Genetic IGF1R defects: new cases expand the spectrum of clinical features

Diagnostic yield of microarrays in individuals with non‐syndromic developmental delay and intellectual disability

A novel variant in severe disease of DADA2: involving vasculitic and haematologic features

Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability

An eight‐case 1q21 region series: novel aberrations and clinical variability with new features

Café noir spots: a feature of familial progressive hyper‐ and hypopigmentation

Impact of Fat Mass and Obesity Associated (FTO) Gene Variants and Lifestyle Factors on Obesity Traits in A Turkish Population

Nonsense mutation dystrophinopathy: How mutation-specific treatments changed our clinical practice?

Expanding the pathological phenotype in megaconial congenital muscular dystrophy

Solving a puzzle: Incidentally detected high creatine kinase level combined with a family history of cardiomyopathy and sudden unexplained death leading to diagnosis of LMNA mutation

Congenital myasthenic syndrome due to COLQ mutations: Clues for diagnosis

Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Rare variant analysis in CAD related loci in patients with premature CAD reveals possible targets for further functional studies

Identification of point mutations and large rearrangements in the BRCA1 gene in 667 Turkish unselected ovarian cancer patients

TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME

Violent behaviour among Turkish high school students and correlates of physical fighting

A multidisciplinary approach to the management of individuals with fragile X syndrome

Parental factors in prenatal decision making and the impact of prenatal genetic counseling: a study on Turkish families

A case series of adenosine deaminase 2 deficient patients emphasizing treatment and genotype-phenotype correlations

Tumour necrosis factor α G→A −238 and G→A −308 polymorphisms in juvenile idiopathic arthritis

Influence of Bacillus Calmette-Guèrin vaccination at birth and 2 months old age on the peripheral blood T-cell subpopulations [gamma/delta (γδ) and alpha-beta (αβ) T cell]

CYP1A1 gene polymorphism and risk of endometrial hyperplasia and endometrial carcinoma

Implications of certain genetic polymorphisms in scarring in vesicoureteric reflux: Importance of ace polymorphism

Opinions of Turkish physicians towards termination of pregnancy for fetal disorders

Thermolabile methylenetetrahydrofolate reductase enzyme genotype is frequent in type 2 diabetic patients with normal fasting homocysteine levels

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