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1 . Academic Journal
Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey
저자
by
Bora, Elcin
;
Caglayan, Ahmet Okay
;
Koc, Altug
;
Cankaya, Tufan
;
Ozkalayci, Hande
, et al.
소스
In
Cancer Genetics
April 2022 262-263:118-133
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7 . Academic Journal
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
저자
by
Ozkalayci, Hande
;
Bora, Elcin
;
Cankaya, Tufan
;
Kocabey, Mehmet
;
Zubari, Nadide Cemre
, et al.
소스
Neurogenetics: New developments in Neurogenetics and Neuroepigenetics.
. :1-13
Web of Science
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7 . Academic Journal
Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.
저자
by
Özsoy, Özlem
;
Cinleti, Tayfun
;
Günay, Çağatay
;
Sarıkaya Uzan, Gamze
;
Giray Bozkaya, Özlem
, et al.
소스
Acta Neurologica Belgica; Dec2023, Vol. 123 Issue 6, p2325-2335, 11p
Web of Science
Scopus
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7 . Academic Journal
Childhood-Onset Neurodegeneration with Cerebellar Atrophy Syndrome: Severe Neuronal Degeneration and Cardiomyopathy with Loss of Tubulin Deglutamylase Cytosolic Carboxypeptidase 1.
저자
by
Samur, Bahadir M.
;
Ercan-Sencicek, Gulhan A.
;
Gumus, Hakan
;
Gumus, Gulsum
;
Baykan, Ali
, et al.
소스
Journal of Pediatric Neurology; Oct2023, Vol. 21 Issue 5, p371-376, 6p
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7 . Periodical
Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families
저자
by
Bora, Elcin
;
Yıldız Bulut, Ayca
;
Cankaya, Tufan
;
Cinleti, Tayfun
;
Genç, Halise Zeynep
, et al.
소스
Molecular Syndromology; October 2023, Vol. 14 Issue: 5 p363-374, 12p
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7 . Academic Journal
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.
저자
by
Kocabey, Mehmet
;
Özkalaycı, Hande
;
Çankaya, Tufan
;
Yılmaz Uzman, Ceren
;
Çağlayan, Ahmet Okay
, et al.
소스
International Journal of Developmental Neuroscience
. Aug2023, Vol. 83 Issue 5, p456-465. 10p.
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7 . Academic Journal
MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9.
저자
by
Cinleti, Tayfun
;
Gülen, Ali
;
Sönmez, Beria
;
Gürsoy, Semra
;
Boyacioğlu, Özge Kangalli
, et al.
소스
Clinical Dysmorphology; Jul2023, Vol. 32 Issue 3, p133-138, 6p
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7 . Academic Journal
An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
저자
by
Yüksel Ülker, Aylin
;
Uludağ Alkaya, Dilek
;
Çağlayan, Ahmet Okay
;
Usluer, Esra
;
Aykut, Ayça
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2023, Vol. 191 Issue 6, p1530-1545, 16p
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7 . Academic Journal
Hemoglobin A1C can differentiate subjects with GCK mutations among patients suspected to have MODY
저자
by
Yılmaz Uzman, Ceren
;
Erbaş, İbrahim Mert
;
Giray Bozkaya, Özlem
;
Paketçi, Ahu
;
Çağlayan, Ahmet Okay
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
. 35(12):1528-1536
Full Text(De Gruyter)
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7 . Academic Journal
Lack of association between the Glu298Asp polymorphism of endothelial nitric oxide synthase and slow coronary flow in the Turkish population
저자
by
Caglayan, Ahmet Okay
;
Kalay, Nihat
;
Saatci, Cetin
;
Yalcın, Arif
;
Akalın, Hilal
, et al.
소스
In
Canadian Journal of Cardiology
2009 25(3):e69-e72
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