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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
