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Journal Articles

Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Hamide Betul Gerik-Celebi, Gul Unsel-Bolat, Hilmi Bolat
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (1): 22–29.
https://doi.org/10.1159/000534123
Published Online: 16 October 2023
View article titled, Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders
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Journal Articles

Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy

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Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Hamide Betul Gerik-Celebi, Hilal Aydin, Hilmi Bolat, Gul Unsel-Bolat
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (3): 208–218.
https://doi.org/10.1159/000529018
Published Online: 06 June 2023
View article titled, Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy
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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 article titled, Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes
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Journal Articles

Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in TRAPPC9 Gene and Literature Review

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Hilmi Bolat, Gül Ünsel-Bolat, Hatice Derin, Aşkın Şen, Serdar Ceylaner
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (4): 263–269.
https://doi.org/10.1159/000522041
Published Online: 09 March 2022
View article titled, Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in TRAPPC9 Gene and Literature Review
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Journal Articles

The Role of Copy Number Variations and FHIT Gene on Phenotypic Characteristics of Cases Diagnosed with Autism Spectrum Disorder

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Subject Area:
Topic Article Package: Moksha , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Gül Ünsel Bolat, Hilmi Bolat
Journal: Molecular Syndromology
Mol Syndromol (2021) 12 (1): 12–19.
https://doi.org/10.1159/000512171
Published Online: 04 March 2021
View article titled, The Role of Copy Number Variations and FHIT Gene on Phenotypic Characteristics of Cases Diagnosed with Autism Spectrum Disorder
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