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Ayberk Turkyilmaz
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Journal Articles

CRB2-Related Syndrome in Two New Patients: Three Novel Variants

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Subject Area:
Genetics
Ayşe Burcu Doğan Arı, Ayberk Türkyılmaz, Nagihan Çiftçi Pınar, Uğur Turhan, Avni Merter Keçeli, Umut Selda Bayrakçı, Esra Kılıç
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000547159
Published Online: 02 July 2025
View articletitled, CRB2-Related Syndrome in Two New Patients: Three Novel Variants
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Journal Articles

Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia

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Subject Area:
Genetics
Oguzhan Yarali, Ayberk Turkyilmaz, Muharrem Bayrak, Mustafa Can Guler, Atilla Cayir
Journal: Molecular Syndromology
Mol Syndromol (2025)
https://doi.org/10.1159/000543282
Published Online: 03 January 2025
View articletitled, Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia
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Journal Articles

Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient

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Subject Area:
Genetics
Yavuzhan Colak, Mustafa Yilmaz, Pinar Ozkan Kart, Kerem Terali, Ayberk Turkyilmaz, Ali Cansu
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (2): 171–179.
https://doi.org/10.1159/000540923
Published Online: 26 September 2024
View articletitled, Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient
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Journal Articles

Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders

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Subject Area:
Genetics
Ayberk Türkyılmaz, Safiye Güneş Sağer, Emine Caliskan, Merve Akçay, Oğuzhan Demir, Baran Baytar, Yasemin Akın
Journal: Molecular Syndromology
Mol Syndromol (2025) 16 (2): 99–114.
https://doi.org/10.1159/000540599
Published Online: 23 August 2024
View articletitled, Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders
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Journal Articles

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

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Subject Area:
Genetics
Burhanettin Yalçınkaya, Kübra Adanur Sağlam, Kerem Terali, Emine Tekin, Hava Taslak, Ayberk Türkyılmaz
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (5): 380–388.
https://doi.org/10.1159/000538676
Published Online: 30 April 2024
View articletitled, Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease
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Journal Articles

Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient

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Subject Area:
Genetics
Mustafa Yılmaz, Ogun Bebek, Ayberk Turkyilmaz
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (4): 317–323.
https://doi.org/10.1159/000536343
Published Online: 23 February 2024
View articletitled, Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient
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Journal Articles

Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene

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Subject Area:
Genetics
Atilla Cayir, Ayberk Turkyilmaz, Hannah Rabenstein, Fadime Guven, Yuksel Sumeyra Karagoz, Dogus Vuralli, Martin Wabitsch, Huseyin Demirbilek
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (2): 104–113.
https://doi.org/10.1159/000535253
Published Online: 19 December 2023
View articletitled, Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene
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Journal Articles

A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate

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Subject Area:
Genetics
Aysenur Kardas Yildiz, Ali Bulbul, Buse Ozer Bekmez, Ayberk Turkyilmaz, Kerem Terali, Aydilek Dagdeviren Cakir, Ahmet Ucar
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (1): 77–82.
https://doi.org/10.1159/000533986
Published Online: 02 October 2023
View articletitled, A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate
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Journal Articles

The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1

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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
Taner Karakaya, Ayberk Turkyilmaz, Deniz Eris, Mehtap Kaya, Kupra Oksuz, Meltem Aygul Eryigit, Gizem Gönen
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (3): 239–245.
https://doi.org/10.1159/000527785
Published Online: 06 June 2023
View articletitled, The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1
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Journal Articles

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

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Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Ayberk Türkyılmaz, Emine Ayça Cimbek, Alper Han Çebi, Elif Acar Arslan, Gülay Karagüzel
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (1): 35–43.
https://doi.org/10.1159/000525393
Published Online: 06 February 2023
View articletitled, De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism
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Journal Articles

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

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Hilmi Bolat, Safiye G. Sağer, Ayberk Türkyılmaz, Alper H. Çebi, Yasemin Akın, Hüseyin Onay, Ferda Özkınay, Gül Ünsel-Bolat
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (5): 363–369.
https://doi.org/10.1159/000524391
Published Online: 27 April 2022
View articletitled, Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes
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Journal Articles

Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Ayberk Türkyılmaz, Emine Tekin, Oğuzhan Yaralı, Alper Han Çebi
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (4): 270–281.
https://doi.org/10.1159/000521330
Published Online: 22 February 2022
View articletitled, Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome
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Journal Articles

A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Esra Arslan Ateş, Ayberk Türkyılmaz, Sevgi Bilgiç Eltan, Safa Barış, Ahmet Ilter Güney
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (1): 80–84.
https://doi.org/10.1159/000518629
Published Online: 15 October 2021
View articletitled, A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient
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Journal Articles

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

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Ayberk Türkyılmaz, Safiye Gunes Sager
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (1): 56–63.
https://doi.org/10.1159/000516201
Published Online: 15 September 2021
View articletitled, Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene
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Journal Articles

First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and Microcephaly

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Ayberk Turkyilmaz, Erdal Kurnaz, Atilla Cayir
Journal: Molecular Syndromology
Mol Syndromol (2021) 12 (4): 258–262.
https://doi.org/10.1159/000515400
Published Online: 10 June 2021
View articletitled, First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and Microcephaly
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Journal Articles

Biallelic Mutations in DNAJB11 are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Esra Arslan Ateş, Ayberk Turkyilmaz, Kenan Delil, Ceren Alavanda, Mehmet Ali Söylemez, Bilgen Bilge Geçkinli, Pinar Ata, Ahmet Arman
Journal: Molecular Syndromology
Mol Syndromol (2021) 12 (3): 179–185.
https://doi.org/10.1159/000513611
Published Online: 01 April 2021
View articletitled, Biallelic Mutations in DNAJB11 are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family
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Journal Articles

A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Ayberk Turkyilmaz, Gunes Sager
Journal: Molecular Syndromology
Mol Syndromol (2020) 11 (5-6): 315–319.
https://doi.org/10.1159/000510994
Published Online: 15 October 2020
View articletitled, A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature
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