Product
Help
Pricing
About
Jobs
Log in
Get started
Author
Add to collection
Cavidan Nur Semerci Gündüz
Observed names:
C Nur Semerci Gündüz,
C. Nur Semerci Gündüz,
Cavidan Nur Semerci,
Cavidan Nur Semerci Gunduz
Observed institutions:
Ministry of Health,
Ankara Yıldırım Beyazıt University,
Pamukkale Üniversitesi Hastaneleri,
Ankara Bilkent City Hospital,
Pamukkale University
ORCID:
0000-0001-5287-8526
Observed ORCID:
0000-0001-5287-8526
OpenAlex ID:
A5071962003
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy
2018
·
Anna Fassio
, Alessandro Esposito
, et al.
·
Brain
·
85
PDF
Neuromuscular disease genetics in under-represented populations: increasing data diversity
2023
·
Lindsay A Wilson
, William L Macken
, et al.
·
Brain
·
33
PDF
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy
2022
·
Büşranur Çavdarlı
, Özlem Yayici Köken
, et al.
·
Annals of Human Genetics
·
13
High diagnostic yield with algorithmic molecular approach on hereditary neuropathies
2023
·
Gülay Güleç Ceylan
, Esra Habiloğlu
, et al.
·
Revista da Associação Médica Brasileira
·
9
PDF
A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type
2019
·
Burcu Albuz
, Gökhan Ozan Çetin
, et al.
·
Clinical Dysmorphology
·
8
Genetic Landscape of Dystrofin Gene Deletions and Duplications From Turkey: A Single Center Experience
2021
·
Büşranur Çavdarlı
, Özlem Köken
, et al.
·
Turkish Journal of Pediatric Disease
·
5
PDF
Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH
2023
·
Özlem Anlaş
, Akgün Ölmez
, et al.
·
Molecular Syndromology
·
4
PDF
Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort
2023
·
Ahmet Cevdet Ceylan
, Büşranur Çavdarlı
, et al.
·
The Tohoku Journal of Experimental Medicine
·
2
PDF
Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition
2022
·
Gülay Güleç Ceylan
, S. Betül Arslan Satılmış
, et al.
·
The Tohoku Journal of Experimental Medicine
·
2
PDF
Mikrodelesyon ve Mikroduplikasyon Sendromları
2018
·
Cavidan Nur Semerci Gündüz
, Burcu Albuz
·
Turkiye Klinikleri Medical Genetics - Special Topics
·
1
2.04eP Expanding clinical and genetic spectrum of alpha-dystroglycanopathies: single-center experience
2026
·
Didem Ardıçlı
, Ezgi Erem
, et al.
·
Neuromuscular Disorders
Bir Rekombinant Kromozom 4 Olgusunun Klinik Özelliklerinin Ayrıntılı Tanımlanması
2020
·
Özlem Anlaş
, Gökhan Ozan Çetin
, et al.
·
Pamukkale Medical Journal
PDF
İşitme Kayıplarında Genetik
2019
·
Bilge Sarıkepe
, Cavidan Nur Semerci Gündüz
·
Turkiye Klinikleri Medical Genetics - Special Topics
Show more works
View as search
Works count:
13
Citation count:
162
H-index:
5
I10-index:
3
Year
Topic
Type
