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1 . Academic Journal
Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series
저자
by
Kisla Ekinci, Rabia Miray
;
Anlas, Ozlem
;
Ozalp, Ozge
.
소스
In
European Journal of Medical Genetics
August 2022 65(8)
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5 . Academic Journal
Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.
저자
by
Ozalp, Ozge
;
Anlas, Ozlem
.
소스
Indian Journal of Hematology & Blood Transfusion; Apr2024, Vol. 40 Issue 2, p268-280, 13p
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4 . Academic Journal
Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study.
저자
by
Şanli, Zeynep Selcan
;
Anlaş, Özlem
.
소스
Molecular Syndromology; 2024, Vol. 15 Issue 2, p89-95, 7p
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4 . Periodical
Detecting a Novel NOTCH3Variant in Patients with Suspected CADASIL: A Single Center Study
저자
by
Şanli, Zeynep Selcan
;
Anlaş, Özlem
.
소스
Molecular Syndromology; March 2024, Vol. 15 Issue: 2 p89-95, 7p
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Scopus
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4 . Academic Journal
An unusual manifestation in a pediatric patient with MAFB mutation: Sacroiliitis in multicentric carpotarsal osteolysis syndrome.
저자
by
Kisla Ekinci, Rabia Miray
;
Ozalp, Ozge
;
Anlas, Ozlem
;
Atmis, Bahriye
;
Ata, Aysun
, et al.
소스
International Journal of Rheumatic Diseases
. Oct2023, Vol. 26 Issue 10, p2064-2068. 5p.
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7 . Academic Journal
The Genotype-phenotype Correlation of HLA-DQ2 and HLA-DQ8 Haplotypes in Pediatric Celiac Disease: A Single Center Experience.
저자
by
Taşkın, Didem Gülcü
;
Anlaş, Özlem
.
소스
Meandros Medical & Dental Journal; 2023, Vol. 24 Issue 3, p220-225, 6p
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4 . Academic Journal
Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.
저자
by
Kışla Ekinci, Rabia Miray
;
Anlaş, Özlem
;
Özalp, Özge
.
소스
Archives of Rheumatology
. Jun2023, Vol. 38 Issue 2, p299-306. 8p.
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5 . Periodical
Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH
저자
by
Anlaş, Özlem
;
Ölmez, Akgün
;
Karaman, Birsen
;
Düzcan, Füsun
;
Yüksel, Selçuk
, et al.
소스
Molecular Syndromology; June 2023, Vol. 14 Issue: 3 p246-253, 8p
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7 . Academic Journal
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.
저자
by
Kisla Ekinci, Rabia Miray
;
Zararsiz, Aslıhan
;
Demir, Gizem Urel
;
Anlas, Ozlem
.
소스
Pediatric Allergy, Immunology & Pulmonology
. Sep2022, Vol. 35 Issue 3, p129-132. 4p.
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6 .
A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation
저자
by
Sarigecili, Esra
;
Bulut, Fatma Derya
;
Anlas, Ozlem
.
소스
In
Clinical Neurology and Neurosurgery
July 2022 218
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