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Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene

Molecular syndromology, 2022-02, Vol.13 (1), p.56-63

2022

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Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

Journal of clinical research in pediatric endocrinology, 2022-09, Vol.14 (3), p.350-355

2022

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Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b

Endocrine, 2021-06, Vol.72 (3), p.852-864

2021

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Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome

Clinical and translational science, 2024-01, Vol.17 (1), p.e13679-n/a

2024

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The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8‐related intellectual developmental disorders

American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63535-n/a

2024

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A Genetic Approach in the Evaluation of Short Stature

The Eurasian journal of medicine, 2022-12, Vol.54 (Suppl1), p.179-S186

2022

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Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease

Molecular syndromology, 2024-10, Vol.15 (5), p.380-388

2024

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Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype

Clinical genetics, 2022-09, Vol.102 (3), p.218-222

2022

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A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature

Journal of Pediatric Endocrinology and Metabolism, 2019-11, Vol.32 (11), p.1287-1293

2019

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Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency

Hormone research in paediatrics, 2021-04, Vol.93 (9-10), p.558-566

2021

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Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2

Clinical endocrinology (Oxford), 2024-02

2024

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Secondary findings in 622 Turkish clinical exome sequencing data

Journal of human genetics, 2021-11, Vol.66 (11), p.1113-1119

2021

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Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing

International ophthalmology, 2023-12, Vol.43 (12), p.4573-4583

2023

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Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency

Journal of assisted reproduction and genetics, 2022-03, Vol.39 (3), p.695-710

2022

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A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes

Clinical dysmorphology, 2024-07, Vol.33 (3), p.118-120

2024

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Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability

Clinical dysmorphology, 2023-01, Vol.32 (1), p.18-20

2023

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Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features

Calcified tissue international, 2022-04, Vol.110 (4), p.441-450

2022

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Genetic Forms of Calciopenic Rickets

The Eurasian journal of medicine, 2022-12, Vol.54 (Suppl1), p.159-S163

2022

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Chanarin-Dorfman syndrome

The Turkish journal of gastroenterology, 2019-01, Vol.30 (1), p.105-108

2019

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De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism

Molecular syndromology, 2023-02, Vol.14 (1), p.35-43

2023

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Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome

Clinical dysmorphology, 2022-01, Vol.31 (1), p.45-49

2022

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Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation

Hormone research in paediatrics, 2020-03, Vol.92 (4), p.262-268

2020

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Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature

Clinical dysmorphology, 2020-10, Vol.29 (4), p.217-223

2020

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Microstructural evaluation of the brain with advanced magnetic resonance imaging techniques in cases of electrical status epilepticus during sleep (ESES)

Turkish journal of medical sciences, 2023-01, Vol.53 (6), p.1840-1851

2023

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Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes

Molecular syndromology, 2022-12, Vol.13 (5), p.363-369

2022

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Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene

Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b

Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome

The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8‐related intellectual developmental disorders

A Genetic Approach in the Evaluation of Short Stature

Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease

Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype

A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature

Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency

Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2

Secondary findings in 622 Turkish clinical exome sequencing data

Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency

A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes

Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features

Genetic Forms of Calciopenic Rickets

Chanarin-Dorfman syndrome

De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism

Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome

Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation

Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature

Microstructural evaluation of the brain with advanced magnetic resonance imaging techniques in cases of electrical status epilepticus during sleep (ESES)

Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes

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