Uzm. Dr. Özlem Anlaş

Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population

Familial Cancer, 2026

DOI 10.1007/s10689-026-00577-w PMID 42258060 1 atıf (Europe PMC) Kaynak: ORCID

A Case of Carney Complex with Pontine Glioma

Journal of clinical research in pediatric endocrinology, 2026

DOI 10.4274/jcrpe.galenos.2025.2025-12-22 PMID 40820605 Açık erişimli tam metinKaynak: Europe PMC

Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants

Biochemical Genetics, 2025

DOI 10.1007/s10528-025-11209-w PMID 40773003 Kaynak: OpenAlex

Novel EXT1 variants cause divergent symptom severity in multiple cartilaginous exostoses: a family report

Egyptian Journal of Medical Human Genetics, 2024

DOI 10.1186/s43042-024-00591-6 Açık erişimli tam metinKaynak: ORCID

The Influence of Genetic Polymorphisms on Warfarin Dosage Requirements in Cardiac Valve Surgery Patients

Cukurova Anestezi ve Cerrahi Bilimler Dergisi, 2024

DOI 10.36516/jocass.1472877 Açık erişimli tam metinKaynak: ORCID

A novel nonsense RPS26 mutation in a patient with Diamond-Blackfan anemia: a case report

Journal of Medical Case Reports, 2024

DOI 10.1186/s13256-024-04907-3 PMID 39568018 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study

Molecular Syndromology, 2024

DOI 10.1159/000534243 PMID 38585552 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience

Indian Journal of Hematology and Blood Transfusion, 2024

DOI 10.1007/s12288-023-01694-7 PMID 38708170 Açık erişimli tam metinKaynak: ORCID

Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey

Molecular Syndromology, 2024

DOI 10.1159/000541313 PMID 40475165 Açık erişimli tam metinKaynak: OpenAlex

The Genotype-phenotype Correlation of HLA-DQ2 and HLA-DQ8 Haplotypes in Pediatric Celiac Disease: A Single Center Experience

Meandros Medical and Dental Journal, 2023

DOI 10.4274/meandros.galenos.2023.90022 Açık erişimli tam metinKaynak: ORCID

HLA DQ2 and HLA DQ8 genetic evaluation in children with Type 1 Diabetes Mellitus and Celiac Disease

Medical Science and Discovery, 2023

DOI 10.36472/msd.v10i3.908 Açık erişimli tam metinKaynak: ORCID

A rare cause of paroxysmal movement disorder associated with TBC1D24 Gene mutation in two siblings

Annals of Indian Academy of Neurology, 2023

DOI 10.4103/aian.aian_465_22 PMID 37538433 Açık erişimli tam metinKaynak: ORCID

An unusual manifestation in a pediatric patient with MAFB mutation: Sacroiliitis in multicentric carpotarsal osteolysis syndrome

International Journal of Rheumatic Diseases, 2023

DOI 10.1111/1756-185x.14700 PMID 37088798 2 atıf (Europe PMC) Kaynak: ORCID

Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH

Molecular Syndromology, 2023

DOI 10.1159/000527160 PMID 37323193 2 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

The Role of miR-26a, miR-29a and miR-448-3p in the Development of Cerebral Aneurysm

Turkish Neurosurgery, 2023

DOI 10.5137/1019-5149.jtn.41357-22.1 PMID 36951025 4 atıf (Europe PMC) Kaynak: ORCID

Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome

Archives of Rheumatology, 2023

DOI 10.46497/archrheumatol.2023.9681 PMID 37680524 2 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Pankreas Hastalıkları El Kitabı

Akademisyen Kitabevi eBooks, 2022

DOI 10.37609/akya.1353 Kaynak: OpenAlex

Tek Merkez, İki Farklı Beta Talasemili Çocuk Hasta Grubunda Beta Talasemi Mutasyonlarının Çeşitliliği

Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, 2022

DOI 10.34087/cbusbed.1078007 Açık erişimli tam metinKaynak: ORCID

Pankreasın Ailesel, Herediter ve Genetik Hastalıkları

Akademisyen Kitabevi eBooks, 2022

DOI 10.37609/akya.1353.c15252 Kaynak: ORCID

A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome

Pediatric Allergy, Immunology, and Pulmonology, 2022

DOI 10.1089/ped.2022.0090 PMID 36121781 3 atıf (Europe PMC) Kaynak: ORCID

A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation

Clinical Neurology and Neurosurgery, 2022

DOI 10.1016/j.clineuro.2022.107283 PMID 35605507 14 atıf (Europe PMC) Kaynak: ORCID

Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series

European Journal of Medical Genetics, 2022

DOI 10.1016/j.ejmg.2022.104555 PMID 35777620 Kaynak: ORCID

Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency

Hormone Research in Paediatrics, 2022

Kaynak: ORCID

GBAMutation Analysis in Turkish Parkinson’s Disease Patients: Comparison of Clinical and Cognitive Performance

Archives in Neurology & Neuroscience, 2022

DOI 10.33552/ann.2022.12.000781 Açık erişimli tam metinKaynak: ORCID

A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type

Clinical Dysmorphology, 2020

DOI 10.1097/mcd.0000000000000295 PMID 31567425 8 atıf (Europe PMC) Kaynak: ORCID

Bir Rekombinant Kromozom 4 Olgusunun Klinik Özelliklerinin Ayrıntılı Tanımlanması

Pamukkale Medical Journal, 2020

DOI 10.31362/patd.644602 Açık erişimli tam metinKaynak: ORCID

A Novel Nonsense Mutation In The EYA1 Gene Found In A Patient With BOR Syndrome

European Journal of Human Genetics, 2019

Kaynak: ORCID

The co-existence of Nablus Mask-Like Facial Syndrome and Klinefelter Syndrome

European Journal of Human Genetics, 2019

Kaynak: ORCID

A case of recombinant chromosome 4: further delineation of the clinical features. Bir Rekombinant Kromozom 4 Olgusunun Klinik Özelliklerinin Ayrıntılı Tanımlanması 201913(1):229-234

AYBU AVESIS, 2019

Kaynak: OpenAlex