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1 . Academic Journal
Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohort
저자
by
Gülşen, Murat
;
Ceylan, Ahmet Cevdet
;
Bahsi, Taha
;
Çubukçu, Hikmet Can
;
Dursun, Onur Burak
.
소스
In
Clinica Chimica Acta
1 March 2024 555
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7 . Academic Journal
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
저자
by
Himmelreich, Nastassja
;
Bertoldi, Mariarita
;
Alfadhel, Majid
;
Alghamdi, Malak Ali
;
Anikster, Yair
, et al.
소스
In
Molecular Genetics and Metabolism
July 2023 139(3)
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7 . Academic Journal
Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel
저자
by
Arslan, Elif Acar
;
Öncel, İbrahim
;
Ceylan, Ahmet Cevdet
;
Topçu, Meral
;
Topaloğlu, Haluk
.
소스
In
Brain and Development
January 2020 42(1):6-18
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7 . Academic Journal
Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.
저자
by
Yılmaz, Begüm
;
Ceylan, Ahmet Cevdet
;
Gündüz, Mehmet
;
Ünal Uzun, Özlem
;
Küçükcongar Yavaş, Aynur
, et al.
소스
European Journal of Pediatrics
. Mar2024, Vol. 183 Issue 3, p1341-1351. 11p.
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7 . Report
Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration
저자
by
Engin Erdal, Ayşenur
;
Yürek, Burak
;
Kıreker Köylü, Oya
;
Ceylan, Ahmet Cevdet
;
Çıtak Kurt, Ayşegül Neşe
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
. 37(3):271-275
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7 . Academic Journal
c.4168G>A(p.Ala 1390Thr) Variation in KMT2D Gene Detected in an Ultra-treatment-resistant Schizophrenia Patient: A Case Report and Literature Review.
저자
by
ALP, Anıl
;
ÖZÇELİK EROĞLU, Elçin
;
YILDIZ, M. İrem
;
CEYLAN, Ahmet Cevdet
;
DEMİR, Başaran
, et al.
소스
Archives of Neuropsychiatry / Nöropsikiyatri Arşivi
. Dec2023, Vol. 60 Issue 4, p380-384. 5p.
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7 . Academic Journal
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.
저자
by
Engin Erdal, Aysenur
;
Kıreker Köylü, Oya
;
Ceylan, Ahmet Cevdet
;
Kasapkara, Çiğdem Seher
;
Tunçez, Ebru
, et al.
소스
Molecular Syndromology; 2024, Vol. 15 Issue 2, p130-135, 6p
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7 . Academic Journal
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study
저자
by
Cavusoglu, Dilek
;
Ozturk, Gulten
;
Turkdogan, Dilsad
;
Kurul, Semra Hiz
;
Yis, Uluc
, et al.
소스
The Cerebellum
. :1-16
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7 . Academic Journal
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene.
저자
by
Esen, Tuna Eren
;
Uzun, Özlem Ünal
;
Ceylan, Ahmet Cevdet
.
소스
Molecular Syndromology; 2023, Vol. 14 Issue 6, p498-503, 6p
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5 . 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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