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Hakan Gurkan
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Journal Articles

Clinical and Genetic Aspects of Verheij Syndrome in Two Cases

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Subject Area:
Genetics
Yade Dilay Kursat, Hazal Sezginer Guler, Drenushe Zhuri, Hakan Gurkan, Sinem Yalcintepe
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000545448
Published Online: 25 March 2025
View article titled, Clinical and Genetic Aspects of Verheij Syndrome in Two Cases
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Journal Articles

Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship

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Subject Area:
Genetics
Hazal Sezginer Guler, Drenushe Zhuri, Sinem Yalcintepe, Servet Altay, Murat Deveci, Selma Demir, Hanefi Yekta Gurlertop, Engin Atli, Emine İkbal Atli, Hakan Gurkan
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (3): 235–246.
https://doi.org/10.1159/000542097
Published Online: 26 November 2024
View article titled, Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship
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Journal Articles

Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease

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Subject Area:
Genetics
Sinem Yalcintepe, Tuba Maras, Ilke Kizilyar, Hazal Sezginer Guler, Drenushe Zhuri, Engin Atli, Yasemin Ozen, Hakan Gurkan
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (4): 284–288.
https://doi.org/10.1159/000536386
Published Online: 16 February 2024
View article titled, Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease
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Journal Articles

A Genetics Study in the Foreskin of Boys with Hypospadias

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Subject Area:
Topic Article Package: ADC (Antibody-Drug Conjugates) , Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Irem Inanc, Dincer Avlan, Damla Eker, Hakan Gurkan
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (3): 185–190.
https://doi.org/10.1159/000527405
Published Online: 06 June 2023
View article titled, A Genetics Study in the Foreskin of Boys with Hypospadias
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Journal Articles

A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient

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Subject Area:
Genetics
Drenushe Zhuri, Fulya Dusenkalkan, Guzin Tunca Alparslan, Hakan Gurkan
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (1): 43–50.
https://doi.org/10.1159/000530585
Published Online: 26 May 2023
View article titled, A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient
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Journal Articles

Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Case

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Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Aslıhan Sanrı, Selma Demir, Hakan Gurkan
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (2): 129–135.
https://doi.org/10.1159/000524832
Published Online: 20 April 2023
View article titled, Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Case
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Journal Articles

Clinical Implications of Chromosome 16 Copy Number Variation

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Subject Area:
Topic Article Package: ADC (Antibody-Drug Conjugates) , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Emine Ikbal Atli, Sinem Yalcintepe, Engin Atli, Selma Demir, Cisem Mail, Hakan Gurkan
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (3): 184–192.
https://doi.org/10.1159/000517762
Published Online: 26 April 2022
View article titled, Clinical Implications of Chromosome 16 Copy Number Variation
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Journal Articles

First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Sinem Yalcintepe, Drenushe Zhuri, Hazal Sezginer Guler, Engin Atli, Selma Demir, Emine Ikbal Atli, Cisem Mail, Hakan Gurkan
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (3): 235–239.
https://doi.org/10.1159/000519149
Published Online: 01 February 2022
View article titled, First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)
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Journal Articles

Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic KRAS Variation

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Selma Demir, Hümeyra Yaşar Köstek, Aslıhan Sanrı, Ruken Yıldırım, Fatma Özgüç Çömlek, Sinem Yalçıntepe, Murat Deveci, Emine İkbal Atlı, Engin Atlı, Damla Eker, Hakan Gürkan, Filiz Tütüncüler Kökenli
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (2): 88–98.
https://doi.org/10.1159/000520722
Published Online: 07 January 2022
View article titled, Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic KRAS Variation
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Journal Articles

Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Selma Demir, Hakan Gürkan, Veysel Öz, Sinem Yalçıntepe, Emine İ. Atlı, Engin Atlı
Journal: Molecular Syndromology
Mol Syndromol (2021) 12 (1): 46–51.
https://doi.org/10.1159/000511971
Published Online: 01 December 2020
View article titled, Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report
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Journal Articles

Distal 3p Duplication and 22q13.3 Deletion with Severe Hypotonia Originating from a Paternal Balanced Translocation (3;22)

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Sinem Yalcintepe, Emine I. Atli, Engin Atli, Selma Demir, Nukhet A. Ciftdemir, Ridvan Duran, Janset Ozdemir, Hakan Gurkan
Journal: Molecular Syndromology
Mol Syndromol (2020) 11 (3): 162–169.
https://doi.org/10.1159/000508646
Published Online: 10 June 2020
View article titled, Distal 3p Duplication and 22q13.3 Deletion with Severe Hypotonia Originating from a Paternal Balanced Translocation (3;22)
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Journal Articles

A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Emine I. Atli, Engin Atli, Sinem Yalcintepe, Hakan Gurkan
Journal: Molecular Syndromology
Mol Syndromol (2020) 10 (6): 320–326.
https://doi.org/10.1159/000505004
Published Online: 21 December 2019
View article titled, A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins
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Journal Articles

Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Aslihan Sanri, Hakan Gurkan, Selma Demir
Journal: Molecular Syndromology
Mol Syndromol (2020) 10 (6): 344–347.
https://doi.org/10.1159/000504374
Published Online: 26 November 2019
View article titled, Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant
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