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ATP7B Gene Variant Profile İdentified by NGS in Wilson’s Disease

Fetal and pediatric pathology, 2023-11, Vol.42 (6), p.891-900

2023

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NOTCH3 variants in patients with suspected CADASIL

Annals of the Indian Academy of Neurology, 2023-07, Vol.26 (4), p.484-490

2023

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Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement

Metabolic brain disease, 2021-08, Vol.36 (6), p.1201-1211

2021

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The relationship between CRP gene polymorphism (rs2794521, rs3091244), ASDAS-CRP and ASDAS-ESR in ankylosing spondylitis

Modern rheumatology, 2020-07, Vol.30 (4), p.715-720

2020

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May PEHO syndrome be a clinical entity associated with early onset encephalopathies?

Annals of the Indian Academy of Neurology, 2020-05, Vol.23 (3), p.401-403

2020

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Urinary stone and infection does not always mean a ‘chicken and egg dilemma’: Answers

Pediatric nephrology (Berlin, West), 2021-08, Vol.36 (8), p.2295-2297

2021

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Urinary stone and infection does not always mean a ‘chicken and egg dilemma’: Questions

Pediatric nephrology (Berlin, West), 2021-08, Vol.36 (8), p.2293-2294

2021

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Clinical exome sequencing findings in 1589 patients

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1557-1564

2023

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First Infertile Case with CSTF2T Gene Mutation

Molecular syndromology, 2020-11, Vol.11 (4), p.228

2020

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A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature

Journal of pediatric hematology/oncology, 2020-08, Vol.42 (6), p.e536-e540

2020

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First Infertile Case with CSTF2TGene Mutation

Molecular syndromology, 2020-11, Vol.11 (4), p.228-231

2020

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The Influence of Polymorphisms of Interleukin-17A and -17F Genes on Susceptibility and Activity of Rheumatoid Arthritis

Genetic testing and molecular biomarkers, 2015-08, Vol.19 (8), p.461-464

2015

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Coexistence of IL12Rβ1 and BTK Mutations in a Family

Immunology, 2024-10

2024

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Novel MECR Mutation in Childhood-Onset Dystonia, Optic Atrophy, and Basal Ganglia Signal Abnormalities

Neuropediatrics, 2019-10, Vol.50 (5), p.336-337

2019

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Acquired Thrombotic Thrombocytopenic Purpura in a 5-Year-old Child With Wiskott-Aldrich Syndrome

Journal of pediatric hematology/oncology, 2022-03, Vol.44 (2), p.e434-e437

2022

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Newly defined peroxisomal disease with novel ACBD5 mutation

Journal of Pediatric Endocrinology and Metabolism, 2022-01, Vol.35 (1), p.11-18

2022

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A Novel Nonsense FMN2 Mutation in Nonsyndromic Autosomal Recessive Intellectual Disability Syndrome

Fetal and pediatric pathology, 2021-12, Vol.40 (6), p.702-706

2021

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A Novel Heterozygous ANO3 Mutation in a Child Presenting Tremor with Dystonia and Review of the Literature

Journal of pediatric neurology, 2022-12, Vol.20 (6), p.403-406

2022

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Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings

Turkish journal of pediatrics, 2020-07, Vol.62 (4), p.657-662

2020

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The role of genetic mutations in intrahepatic cholestasis of pregnancy

Taiwanese journal of obstetrics & gynecology, 2020-09, Vol.59 (5), p.706-710

2020

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A Diagnostic Dilemma: Job Syndrome Mimics Abusive Trauma

Çocuk acil ve yoğun bakım, 2024-08, p.133-136

2024

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A Novel Homozygous Mutation in the MYO5B Gene Associated With Normal-Gamma-Glutamyl Transferase Progressive Familial Intrahepatic Cholestasis

Curēus (Palo Alto, CA), 2021-11

2021

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Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation

Journal of Pediatric Endocrinology and Metabolism, 2020-03, Vol.33 (3), p.437-441

2020

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Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3

Fetal and pediatric pathology, 2022-04, Vol.41 (2), p.293-298

2022

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Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

Journal of clinical research in pediatric endocrinology, 2015-03, Vol.7 (1), p.69-72

2015

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ATP7B Gene Variant Profile İdentified by NGS in Wilson’s Disease

NOTCH3 variants in patients with suspected CADASIL

Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement

The relationship between CRP gene polymorphism (rs2794521, rs3091244), ASDAS-CRP and ASDAS-ESR in ankylosing spondylitis

May PEHO syndrome be a clinical entity associated with early onset encephalopathies?

Urinary stone and infection does not always mean a ‘chicken and egg dilemma’: Answers

Urinary stone and infection does not always mean a ‘chicken and egg dilemma’: Questions

Clinical exome sequencing findings in 1589 patients

First Infertile Case with CSTF2T Gene Mutation

A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature

First Infertile Case with CSTF2TGene Mutation

The Influence of Polymorphisms of Interleukin-17A and -17F Genes on Susceptibility and Activity of Rheumatoid Arthritis

Coexistence of IL12Rβ1 and BTK Mutations in a Family

Novel MECR Mutation in Childhood-Onset Dystonia, Optic Atrophy, and Basal Ganglia Signal Abnormalities

Acquired Thrombotic Thrombocytopenic Purpura in a 5-Year-old Child With Wiskott-Aldrich Syndrome

Newly defined peroxisomal disease with novel ACBD5 mutation

A Novel Nonsense FMN2 Mutation in Nonsyndromic Autosomal Recessive Intellectual Disability Syndrome

A Novel Heterozygous ANO3 Mutation in a Child Presenting Tremor with Dystonia and Review of the Literature

Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings

The role of genetic mutations in intrahepatic cholestasis of pregnancy

A Diagnostic Dilemma: Job Syndrome Mimics Abusive Trauma

A Novel Homozygous Mutation in the MYO5B Gene Associated With Normal-Gamma-Glutamyl Transferase Progressive Familial Intrahepatic Cholestasis

Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation

Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

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