BAUN Avesis
BAUN Avesis
TR
EN
Yayınlar & Eserler
SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler 21
Cohen syndrome: Can early-onset recurrent infections and hypotonia provide early diagnosis and intervention for intellectual disability?
International Journal of Developmental Neuroscience, Cilt: 84, 2024 (SCI-Expanded)
A novel MAOA gene variant: Brunner syndrome, a rare syndrome, is associated with a wide range of psychiatric symptoms
International Journal of Developmental Neuroscience, Cilt: 84, 2024 (SCI-Expanded)
Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience
International Journal of Developmental Neuroscience, Cilt: 84, 2024 (SCI-Expanded)
Phenotypes of autism spectrum disorder and schizoaffective disorder associated with SETD1B gene but without intellectual disability and seizures
International Journal of Developmental Neuroscience, Cilt: 84, 2024 (SCI-Expanded)
Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders
S. Karger AG, 2024 (SCI-Expanded)
Rare heterozygous genetic variants of NRXN and NLGN gene families involved in synaptic function and their association with neurodevelopmental disorders
Developmental Neurobiology, Cilt: 84, 2024 (SCI-Expanded)
Nanopore sequencing method for CTG18.1 expansion in TCF4 in late-onset Fuchs endothelial corneal dystrophy and a comparison of the structural features of cornea with first-degree relatives
Springer Science and Business Media LLC, 2024 (SCI-Expanded)
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy
Molecular Syndromology, 2023 (SCI-Expanded)
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes
Molecular Syndromology, Cilt: 13, Sayı: 5, 2022 (SCI-Expanded)
Phenotypic and Brain Imaging Findings Associated with a 10p Proximal Deletion Including the WAC Gene: Case Report and Literature Review
Cognitive and Behavioral Neurology, Cilt: 35, Sayı: 3, 2022 (SCI-Expanded)
Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in TRAPPC9 Gene and Literature Review
Molecular Syndromology, Cilt: 13, Sayı: 4, 2022 (SCI-Expanded)
The Role of Next Generation Sequencing in Diagnosis of Patients with Rare Syndromic Short Stature Nadir Sendromik Boy Kisaliǧi Olan Olgularin Tanisinda Yeni Nesil Dizilemenin Rolü
Gazi Medical Journal, Cilt: 33, Sayı: 4, 2022 (SCI-Expanded)
Investigation of possible associations of the BDNF, SNAP-25 and SYN III genes with the neurocognitive measures: BDNF and SNAP-25 genes might be involved in attention domain, SYN III gene in executive function
Nordic Journal of Psychiatry, Cilt: 6, Sayı: 8, 2022 (SCI-Expanded)
Complementary Approaches in Fetal Genetic Diagnosis: Decision-Making Process and Alternative Choices for Clinicians in a Secondary Health Care Institution
Fetal and Pediatric Pathology, Cilt: 41, Sayı: 6, 2022 (SCI-Expanded)
The Role of Copy Number Variations and FHIT Gene on Phenotypic Characteristics of Cases Diagnosed with Autism Spectrum Disorder
Molecular Syndromology, Cilt: 12, Sayı: 1, 2021 (SCI-Expanded)
20-year experience on prenatal diagnosis in a reference university medical genetics center in turkey
Durmaz M. B.
Bolat H.
Cengisiz Z.
Akercan F.
Sözen Türk T.
Parıltay E.
Ece Solmaz A.
Kazandı M.
Karaca E.
Durmaz A.
Aykut A.
Sağol S.
Akın H.
Özkınay F. F.
Çoğulu M. Ö.
Daha Fazlası
TURKISH JOURNAL OF MEDICAL SCIENCES, Cilt: 51, 2021 (SCI-Expanded)
Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population
Journal of Pediatric Endocrinology and Metabolism, Cilt: 33, Sayı: 10, 2020 (Hakemli Dergi)
Cytogenetic analysis of miscarriage materials of couples with recurrent pregnancy loss in a tertiary center
Akın H.
Karaca E.
Hortu İ.
Bolat H.
Cengisiz Z.
Kazandı M.
Durmaz M. B.
Aykut A.
Durmaz A.
Çoğulu M. Ö.
Daha Fazlası
Clinical and Experimental Obstetrics Gynecology, Cilt: 46, Sayı: 3, 2019 (SCI-Expanded)
Comparisons between sluggish cognitive tempo and ADHD-restrictive inattentive presentation phenotypes in a clinical ADHD sample.
Attention Deficit Hyperactivity Disorders, 2019 (Hakemli Dergi)
Attention-deficit/hyperactivity disorder and very preterm/very low birth weight: A meta-analysis
Franz A. P.
Ünsel Bolat G.
Bolat H.
Matıjasevıch A.
Santos I. S.
Sılverıa R. C.
Procıanoy R. S.
Rohde L. A.
Moreıra-maıa C.
Daha Fazlası
Pediatrics, Cilt: 141, Sayı: 1, 2018 (SCI-Expanded)
Validity of proposed DSM 5 ADHD impılsivity symptoms in children
Europen Child & Adolescent Psychiatry, 2016 (Hakemli Dergi)
Diğer Dergilerde Yayınlanan Makaleler 5
Nörofibromatozis Tip1’li Olgularda NF1 Geni Varyant Spektrumu: Tek Merkez Deneyimi
Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, Cilt: 10, Sayı: 1, 2023 (Hakemli Dergi)
Current Situation in Planning and Evaluation of Etiological Genetic Tests in Children with Developmental Delay/Intellectual Disability: Single Center Experience
Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, Cilt: 9, Sayı: 2, 2022 (Hakemli Dergi)
Down Sendromu Tanılı Olgularda Aile ve Çocuğa Ait Sosyodemografik Özelliklerin Değerlendirilmesi
Balıkesır Health Sciences Journal, Cilt: 11, Sayı: 1, 2022 (Hakemli Dergi)
BRCA and non-BRCA Variants Detected by Next Generation Sequencing in Patients with Hereditary Breast and/or Ovarian Cancer Syndrome
Acta Oncologica Turcica, Cilt: 55, Sayı: 2, 2022 (Hakemli Dergi)
Sluggish Cognitive Tempo and Attention Deficit Hyperactivity Disorder: Similarities and Differences Yavaş Bilişsel Tempo ve Dikkat Eksikliği Hiperaktivite Bozukluğu: Benzerlikleri ve Farklılıkları
Ünsel Bolat G.
Bolat H.
Özgül S.
Süren S.
Yazıcı K. U.
Bacanlı A.
Tahıllıoğlu H. A.
Parıltay E.
Akın H.
Ercan E. S.
Daha Fazlası
Çocuk ve Gençlik Ruh Sağlığı Dergisi, Cilt: 27, Sayı: 3, 2020 (Scopus)