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11 . Academic Journal
A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.
저자
by
Ateş, Burcu Berberoğlu
;
Ceylan, Ahmet Cevdet
;
Hızal, Gülin
;
Duran, Fatih
;
Doğan, Hayriye Tatlı
, et al.
소스
Turkish Journal of Pediatrics; Nov/Dec2023, Vol. 65 Issue 6, p1012-1017, 6p, 1 Color Photograph
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17 . Academic Journal
Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort.
저자
by
Ceylan, Ahmet Cevdet
;
Çavdarlı, Büşranur
;
Ceylan, Gülay Güleç
;
Topçu, Vehap
;
Arslan Satılmış, S. Betül
, et al.
소스
Tohoku Journal of Experimental Medicine; Nov2023, Vol. 261 Issue 3, p179-185, 7p
Open Access (JSTAGE)
Scopus
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17 . Academic Journal
Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.
저자
by
Ceylan, Ahmet Cevdet
;
Kireker Köylü, Oya
;
Özyürek, Hamit
;
Özaydin, Eda
;
Yön, Mehmet İlker
, et al.
소스
Acta Neurologica Belgica; Oct2023, Vol. 123 Issue 5, p1757-1761, 5p
Scopus
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17 . Periodical
Homozygous SLC20A2mutations cause congenital CMV infection-like phenotype
저자
by
Ceylan, Ahmet Cevdet
;
Kireker Köylü, Oya
;
Özyürek, Hamit
;
Özaydin, Eda
;
Yön, Mehmet İlker
, et al.
소스
Acta neurologica Belgica; October 2023, Vol. 123 Issue: 5 p1757-1761, 5p
Scopus
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17 . Report
ALG11-CDG: novel variant and review of the literature
저자
by
Erdal, Ayşenur Engin
;
Ceylan, Ahmet Cevdet
;
Gücüyener, Kıvılcım
;
Öktem, Rıdvan Murat
;
Kıreker Köylü, Oya
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
. 36(4):409-413
Full Text(De Gruyter)
Scopus
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17 . Academic Journal
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy.
저자
by
Çavdarlı, Büşranur
;
Köken, Özlem Yayici
;
Satılmış, Saide Betül Arslan
;
Bilen, Şule
;
Ardıçlı, Didem
, et al.
소스
Annals of Human Genetics
. May2023, Vol. 87 Issue 3, p104-114. 11p.
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17 . Academic Journal
Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report.
저자
by
Ürey, Burcu Civelek
;
Ceylan, Ahmet Cevdet
;
Çavdarlı, Büşranur
;
Çıtak Kurt, Ayşegül Neşe
;
Köylü, Oya Kıreker
, et al.
소스
Molecular Syndromology; 2023, Vol. 14 Issue 2, p171-174, 4p
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17 . Academic Journal
CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C.
저자
by
Kasapkara, Çiğdem Seher
;
Ceylan, Ahmet Cevdet
;
Yılmaz, Deniz
;
Kıreker Köylü, Oya
;
Yürek, Burak
, et al.
소스
Molecular Syndromology; 2023, Vol. 14 Issue 1, p30-34, 5p
Scopus
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17 . Academic Journal
Çoklu Konjenital Anomali Vakası: Parsiyel Trizomi 14 ve Parsiyel Trizomi 22.
저자
by
GENÇ, Aslı
;
CEYLAN, Ahmet Cevdet
;
BİLGİN, Betül SİYAH
;
KILIÇ, Esra
.
소스
Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi
. Nov2022, Vol. 16 Issue 6, p551-554. 4p.
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16 . Academic Journal
Investigation of sub‐chromosomal changes in males with idiopathic azoospermia by chromosomal microarray analysis.
저자
by
Çitli, Şenol
;
Ceylan, Ahmet Cevdet
;
Erdemir, Fikret
.
소스
Andrologia
. Oct2022, Vol. 54 Issue 9, p1-6. 6p.
Scopus
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