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A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation

Journal of clinical research in pediatric endocrinology, 2019-06, Vol.11 (2), p.196-201

2019

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Renal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case Report

Endocrine, metabolic & immune disorders drug targets, 2023-01, Vol.23 (5), p.727

2023

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Hypokalemia and hearing loss in a 3-year-old boy: Questions

Pediatric nephrology (Berlin, West), 2020-04, Vol.35 (4), p.615-615

2020

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Hypokalemia and hearing loss in a 3-year-old boy: Answers

Pediatric nephrology (Berlin, West), 2020-04, Vol.35 (4), p.617-618

2020

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Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2

Journal of clinical research in pediatric endocrinology, 2023-02, Vol.15 (1), p.97-102

2023

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Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3)

Neurological sciences, 2021-09, Vol.42 (9), p.3871-3878

2021

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Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment

Journal of clinical research in pediatric endocrinology, 2022-09, Vol.14 (3), p.356-360

2022

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A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

Metabolic brain disease, 2022-04, Vol.37 (4), p.1283-1287

2022

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Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene

European journal of pediatrics, 2014-12, Vol.173 (12), p.1707-1710

2014

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A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features

Case reports in immunology, 2022-07, Vol.2022, p.1-5

2022

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Maturity-onset diabetes of the young (MODY)-related genetic variants in a Turkish patient cohort with early-onset diabetes: a cross-sectional study

International journal of diabetes in developing countries, 2023-04, Vol.43 (2), p.244-251

2023

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Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene

Journal of clinical research in pediatric endocrinology, 2020-09, Vol.12 (3), p.319-328

2020

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Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia

Metabolic brain disease, 2021-08, Vol.36 (6), p.1213-1222

2021

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The Prevalence of Fabry Disease Among Turkish Patients with Non-Obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study

Balkan medical journal, 2019-11, Vol.36 (6), p.354-358

2019

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Glucose-6-phosphate dehydrogenase gene Ala365Thr mutation in an Iraqi family with confusing clinical differences

Türk biyokimya dergisi, 2021-12, Vol.46 (6), p.729-731

2021

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A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care

Journal of clinical research in pediatric endocrinology, 2023-12, Vol.15 (4), p.431-437

2023

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Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

Journal of clinical research in pediatric endocrinology, 2021-03, Vol.13 (1), p.114-118

2021

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Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia

Taiwanese journal of obstetrics & gynecology, 2016-08, Vol.55 (4), p.613-615

2016

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Scales of Magt1 Gene: Novel Mutations, Different Presentations

Iranian journal of allergy, asthma, and immunology, 2022-02, Vol.21 (1), p.92

2022

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Importance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC Screening

Turkish journal of haematology, 2020-01, Vol.37 (2), p.134-135

2020

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Vici syndrome in siblings born to consanguineous parents

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.220-225

2016

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A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report

Pediatric rheumatology online journal, 2023-01, Vol.21 (1), p.8-8, Article 8

2023

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Clinical Features and Outcomes of 23 Patients with Wiskott- Aldrich Syndrome: A Single-Center Experience

Turkish journal of haematology, 2020-11, Vol.37 (4), p.271-281

2020

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Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report

Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia, 2021-11, Vol.165 (4), p.454-457

2021

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A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation

Renal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case Report

Hypokalemia and hearing loss in a 3-year-old boy: Questions

Hypokalemia and hearing loss in a 3-year-old boy: Answers

Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 2

Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3)

Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment

A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene

A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features

Maturity-onset diabetes of the young (MODY)-related genetic variants in a Turkish patient cohort with early-onset diabetes: a cross-sectional study

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia

The Prevalence of Fabry Disease Among Turkish Patients with Non-Obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study

Glucose-6-phosphate dehydrogenase gene Ala365Thr mutation in an Iraqi family with confusing clinical differences

A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care

Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia

Scales of Magt1 Gene: Novel Mutations, Different Presentations

Importance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC Screening

Vici syndrome in siblings born to consanguineous parents

A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report

Clinical Features and Outcomes of 23 Patients with Wiskott- Aldrich Syndrome: A Single-Center Experience

Novel mutations in TRPM6 gene associated with primary hypomagnesemia with secondary hypocalcemia. Case report

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