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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
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
저자
by
Mitani, Tadahiro
;
Isikay, Sedat
;
Gezdirici, Alper
;
Gulec, Elif Yilmaz
;
Punetha, Jaya
, et al.
소스
In
The American Journal of Human Genetics
August 2021
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7 . Academic Journal
Physical activity of patients with bronchiectasis compared with healthy counterparts: A cross-sectional study
저자
by
Cakmak, Aslihan
;
Inal-Ince, Deniz
;
Sonbahar-Ulu, Hazal
;
Bozdemir-Ozel, Cemile
;
Ozalp, Ozge
, et al.
소스
In
Heart & Lung
January-February 2020 49(1):99-104
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7 . 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
Web of Science
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
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
저자
by
Saadi, Abdelkrim
;
Navarro, Claire
;
Ozalp, Ozge
;
Lourenco, Charles Marques
;
Fayek, Racha
, et al.
소스
American Journal of Medical Genetics. Part A; Sep2023, Vol. 191 Issue 9, p2274-2289, 16p
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7 . 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 . Report
Diagnostic value of plasma lysosphingolipids levels in a Niemann–Pick disease type C patient with transient neonatal cholestasis
저자
by
Bulut, Fatma Derya
;
Bozbulut, Neslihan Ekşi
;
Özalp, Özge
;
Dalgiç, Buket
;
Mungan, Neslihan Önenli
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
. 35(5):681-685
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7 . Academic Journal
EFFECTS OF CHROMOSOMAL TRANSLOCATIONS ON SPERM COUNT IN AZOOSPERMIC AND OLIGOSPERMIC CASES.
저자
by
Ayaz, Akif
;
Yalcintepe, Sinem
;
Ozalp, Ozge
;
Gulec, Elif Yilmaz
;
Gezdirici, Alper
, et al.
소스
Journal of Basic & Clinical Health Sciences; 2022, Vol. 6 Issue 3, p921-927, 7p
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7 . Academic Journal
Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers.
저자
by
AYAZ, Akif
;
GEZDIRICI, Alper
;
YILMAZ GULEC, Elif
;
OZALP, Ozge
;
KOSEOGLU, Abdullah Huseyin
, et al.
소스
Medeniyet Medical Journal
. 2022, Vol. 37 Issue 2, p180-193. 14p.
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