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Ece Çepni
ORCID
Publication Activity (10 Years)
Years Active: 2021-2023
Publications (10 Years): 2
Top Topics
Early Onset
Clinical Trial
Intellectual Disability
Autism Spectrum Disorder
Top Venues
American journal of medical genetics. Part A
Clinical genetics
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This page only lists publications with an associated author ORCID identifier.
Publications
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Ece Çepni
,
Esra Börklü
,
Sahin Avci
,
Tuğba Kalaycı
,
Serpil Eraslan
,
Hülya Kayserili
Revisiting TOP2B-related phenotypes: Three new cases and literature review.
Clinical genetics
(2023)
Ece Çepni
,
Nihan Bilge Satkın
,
Lia Abbasi Moheb
,
Maria Eugenia Rocha
,
Hülya Kayserili
Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.
American journal of medical genetics. Part A
(2021)