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Localized Placental Mesenchymal Dysplasia in Monochorionic Diamniotic Twin Placenta with Beckwith-Wiedemann Syndrome

Fetal and pediatric pathology, 2022-07, Vol.41 (4), p.1-664

2022

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Novel findings, mini‐review and dysmorphological characterization of 16p13.11 microduplication syndrome

International journal of developmental neuroscience, 2022-06, Vol.82 (4), p.289-294

2022

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Extended-spectrum of KRAS and NRAS mutations in lung cancer tissue specimens obtained with bronchoscopy

Indian journal of cancer, 2022-04, Vol.59 (2), p.236-243

2022

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The XRCC1 and TP53 gene polymorphisms are associated with advanced-stage disease and early distant metastasis at diagnosis in non-small cell lung cancer

Journal of cancer research and therapeutics, 2023-07, Vol.19 (5), p.1248-1254

2023

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Interchromosomal effect: Report of a father and son, bearing different translocations of the same chromosome, and a review of the current literature

Andrologia, 2021-02, Vol.53 (1), p.e13805-n/a

2021

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Comparison of MicroRNA Levels of 18-60-month-old Autistic Children with Those of Their Siblings and Controls

Clinical Psychopharmacology and Neuroscience, 2024, 22(2), , pp.322-332

2024

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Relationship between Glutathione S-transferase gene polymorphisms and clinical features of psoriasis: A case-control study in the Turkish population

Türkderm, 2024-10, Vol.58 (3), p.75-82

2024

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X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature

Gazi tıp dergisi, 2024-10, Vol.35 (3), p.338-341

2024

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An Unusual Diagnostic Journey Through MLPA: From Spinal Muscular Atrophy to a Severe Case of Prader-Willi Syndrome

Journal of Clinical Practice & Research, 2023-09, Vol.45 (5), p.528-533

Göktaş, Emine

2023

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LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings

Clinical dysmorphology, 2019-04, Vol.28 (2), p.81-85

2019

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A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype—c.4096A > T

Journal of pediatric genetics (Birmingham, Ala.), 2020-03, Vol.9 (1), p.040-043

2020

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NAT2 Gene Polymorphisms in Turkish Patients with Psoriasis Vulgaris

BioMed research international, 2018-01, Vol.2018 (2018), p.1-14

2018

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Evaluation of immunological abnormalities in patients with rare syndromes

Central-European journal of immunology, 2022-01, Vol.47 (4), p.299-307

2022

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Male infertility associated with de novo pericentric inversion of chromosome 1

Turkish journal of urology, 2017-12, Vol.43 (4), p.560-562

2017

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Investigation of the relationship between ischemic stroke and endothelial nitric oxide synthase gene polymorphisms [G894T, intron 4 VNTR and T786C]

TURKISH JOURNAL OF MEDICAL SCIENCES, 2019-04, Vol.49 (2), p.589-594

2019

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A rare case in literature: Isochromosome Xq in Klinefelter syndrome

Andrologia, 2019-06, Vol.51 (5), p.e13253-n/a

2019

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Differentiated Thyroid Papillary Carcinoma with Cerebellar Metastasis: A Case Report

Turkish Journal of Endocrinology and Metabolism, 2017-03, Vol.21 (1), p.22-25

2017

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Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene

Neurology and clinical neuroscience, 2023-09, Vol.11 (5), p.286-288

2023

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A new approach to chromosomal abnormalities in sperm from patients with oligoasthenoteratozoospermia: detection of double aneuploidy in addition to single aneuploidy and diploidy by five-color fluorescence in situ hybridization using one probe set

Fertility and sterility, 2008-06, Vol.89 (6), p.1709-1717

2008

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A Turkish Family with Loeys-dietz Syndrome and a Report of a Homozygous Patient with SMAD3 Pathogenic Variation

Haseki tıp bülteni, 2022-01, Vol.60 (1), p.84-88

2022

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MicroRNAs and lung cancer

Tüberküloz ve toraks, 2013-01, Vol.61 (1), p.57-62

2013

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The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey

Balkan Medical Journal, 2021-11, Vol.38 (6), p.357-364

2021

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Evaluation of smoking genotoxicity in Turkish young adults

Indian journal of human genetics, 2011-01, Vol.17 (1), p.7-12

2011

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Distal trisomy 10q24 due to maternal 10;22 translocation, third case in the same family

Central European journal of medicine, 2012-06, Vol.7 (3), p.366-370

2012

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Impact of Simultaneous Presence of Multiple PML-RARA Isoforms on Phenotype in Patients with Acute Promyelocytic Leukaemia

Journal of the College of Physicians and Surgeons--Pakistan, 2024-11, Vol.34 (11), p.1552-1556

2024

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Localized Placental Mesenchymal Dysplasia in Monochorionic Diamniotic Twin Placenta with Beckwith-Wiedemann Syndrome

Novel findings, mini‐review and dysmorphological characterization of 16p13.11 microduplication syndrome

Extended-spectrum of KRAS and NRAS mutations in lung cancer tissue specimens obtained with bronchoscopy

The XRCC1 and TP53 gene polymorphisms are associated with advanced-stage disease and early distant metastasis at diagnosis in non-small cell lung cancer

Interchromosomal effect: Report of a father and son, bearing different translocations of the same chromosome, and a review of the current literature

Comparison of MicroRNA Levels of 18-60-month-old Autistic Children with Those of Their Siblings and Controls

Relationship between Glutathione S-transferase gene polymorphisms and clinical features of psoriasis: A case-control study in the Turkish population

X Chromosome Pericentric Inversion: Report of a Case with 46,X,inv(X)(p11.2q26) and a Mini-Review of the Literature

An Unusual Diagnostic Journey Through MLPA: From Spinal Muscular Atrophy to a Severe Case of Prader-Willi Syndrome

LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings

A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype—c.4096A > T

NAT2 Gene Polymorphisms in Turkish Patients with Psoriasis Vulgaris

Evaluation of immunological abnormalities in patients with rare syndromes

Male infertility associated with de novo pericentric inversion of chromosome 1

Investigation of the relationship between ischemic stroke and endothelial nitric oxide synthase gene polymorphisms [G894T, intron 4 VNTR and T786C]

A rare case in literature: Isochromosome Xq in Klinefelter syndrome

Differentiated Thyroid Papillary Carcinoma with Cerebellar Metastasis: A Case Report

Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene

A new approach to chromosomal abnormalities in sperm from patients with oligoasthenoteratozoospermia: detection of double aneuploidy in addition to single aneuploidy and diploidy by five-color fluorescence in situ hybridization using one probe set

A Turkish Family with Loeys-dietz Syndrome and a Report of a Homozygous Patient with SMAD3 Pathogenic Variation

MicroRNAs and lung cancer

The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey

Evaluation of smoking genotoxicity in Turkish young adults

Distal trisomy 10q24 due to maternal 10;22 translocation, third case in the same family

Impact of Simultaneous Presence of Multiple PML-RARA Isoforms on Phenotype in Patients with Acute Promyelocytic Leukaemia

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