Zobrazeno 1 - 5 of 5 pro vyhledávání: '"meryem, Betmezoglu"'
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The Biennial report: The collaboration between MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases and Near East University DESAM Institute
Autor: Gulten Tuncel, Meryem Betmezoglu, Stefano Paolacci, Havva Cobanogullari, Tamer Sanlidag, Matteo Bertelli, Elena Manara, Mahmut Cerkez Ergoren
Publikováno v: The EuroBiotech Journal, Vol 4, Iss 4, Pp 167-170 (2020)
Background Scientific collaboration is more common now than it was before. In many areas of biomedical science, collaborations between researchers with different scientific backgrounds and perspectives have enabled researchers to address complicated
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2368486db0c92ee1bcbf21818a66f73
https://doi.org/10.2478/ebtj-2020-0020
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3
Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family
Autor: Mahmut Cerkez Ergoren, Nese Akcan, Elena Manara, Stefano Paolacci, Umut Fahrioğlu, Meryem Betmezoglu, Ruveyde Bundak, Gamze Mocan, Sehime Gulsun Temel, Matteo Bertelli
Publikováno v: Applied immunohistochemistrymolecular morphology : AIMM. 30(9)
Trichorhinophalangeal syndrome (TRPS) is an extremely rare autosomal dominant multisystem disorder characterized by craniofacial and skeletal abnormalities. Three subtypes of TRPS have been described: TRPS type I, TRPS type II, and TRPS type III. Mut
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66824c6e7ef10c2e19be793ecdd05fae
https://pubmed.ncbi.nlm.nih.gov/36093893
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