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Sevil Dorum
ORCID
Publication Activity (10 Years)
Years Active: 2021-2021
Publications (10 Years): 7
Top Topics
Cerebrospinal Fluid
Clostridium Difficile
Genome Wide Analysis
Late Onset
Top Venues
Metabolic brain disease
Pediatrics international : official journal of the Japan Pediatric Society
American journal of medical genetics. Part A
Neurological research
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This page only lists publications with an associated author ORCID identifier.
Publications
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Cengiz Havali
,
Arzu Ekici
,
Sevil Dorum
,
Özlem Görükmez
,
Ali Topak
Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations.
Neurological research
43 (9) (2021)
Sevil Dorum
,
Cengiz Havalı
Case series of Arginase 1 deficiency: Expanding the spectrum in hyperargininemia.
Pediatrics international : official journal of the Japan Pediatric Society
(2021)
Sevil Dorum
,
Özlem Görükmez
Expanding the clinical spectrum in trichohepatoenteric syndrome.
American journal of medical genetics. Part A
185 (10) (2021)
Sevil Dorum
,
Hakan Erdoğan
,
Adem Yasin Köksoy
,
Ali Topak
,
Özlem Görükmez
Clinical features of pediatric renal glucosuria cases due to SLC5A2 gene variants.
Pediatrics international : official journal of the Japan Pediatric Society
(2021)
Pelin Teke Kisa
,
Gonca Kilic Yildirim
,
Burcu Ozturk Hismi
,
Sevil Dorum
,
Özge Yılmaz Küsbeci
,
Ali Topak
,
Figen Baydan
,
Fatma Nazlı Durmaz Celik
,
Orhan Görükmez
,
Zumrut Arslan Gulten
,
Arzu Ekici
,
Serhat Ozkan
,
Aylin Yaman
,
Nur Arslan
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.
Metabolic brain disease
36 (6) (2021)
Özlem Görükmez
,
Cengiz Havali
,
Orhan Görükmez
,
Sevil Dorum
Newly defined peroxisomal disease with novel ACBD5 mutation.
Journal of pediatric endocrinology & metabolism : JPEM
(2021)
Cengiz Havali
,
Sevil Dorum
,
Arzu Ekici
,
Özlem Görükmez
Approaches for diagnosis and treatment in neurotransmitter disorders of childhood.
Metabolic brain disease
36 (8) (2021)