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Number of items: 3.

Journal Article

Ardicli, Didem, Gocmen, Rahsan, Talim, Beril, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Haliloglu, Goknur, Cirak, Sebahattin and Topaloglu, Haluk (2017). Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation. Neuromusc. Disord., 27 (3). S. 239 - 243. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Daimagueler, Huelya-Sevcan, Akpulat, Ugur, Oezdemir, Oezkan, Yis, Uluc, Gungor, Serdal, Talim, Beril, Diniz, Gulden, Baydan, Figen, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter and Cirak, Sebahattin (2021). Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey. Am. J. Med. Genet. A, 185 (6). S. 1678 - 1691. HOBOKEN: WILEY. ISSN 1552-4833

Haliloglu, Goknur, Becker, Kerstin, Temucin, Cagri, Talim, Beril, Kucuksahin, Nalan, Pergande, Matthias, Motameny, Susanne, Nurnberg, Peter, Aydingoz, Ustun ORCID: 0000-0002-4325-847X, Topaloglu, Haluk and Cirak, Sebahattin (2017). Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. J. Hum. Genet., 62 (4). S. 497 - 502. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

This list was generated on Thu Apr 18 19:51:07 2024 CEST.