 | Up a level |
2020
Pergande, Matthias, Motameny, Susanne, Oezdemir, Oezkan, Kreutzer, Mona, Wang, Haicui, Daimagueler, Huelya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald 
ORCID: 0000-0003-4587-1734, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Ozgur, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schaenzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Goknur, Topaloglu, Haluk, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Heller, Raoul and Cirak, Sebahattin
(2020).
The genomic and clinical landscape of fetal akinesia.
Genet. Med., 22 (3).
S. 511 - 524.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1530-0366
2018
Karakaya, Mert ORCID: 0000-0001-5395-8894, Storbeck, Markus, Strathmann, Eike A., Delle Vedove, Andrea, Hoelker, Irmgard, Altmueller, Janine, Naghiyeva, Leyla, Schmitz-Steinkrueger, Lea, Vezyroglou, Katharina, Motameny, Susanne, Alawbathani, Salem, Thiele, Holger, Polat, Ayse Ipek, Okur, Derya, Boostani, Reza, Karimiani, Ehsan Ghayoor, Wunderlich, Gilbert, Ardicli, Didem, Topaloglu, Haluk, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Schrank, Bertold, Maroofian, Reza, Magnusson, Olafur, Yis, Uluc, Nuernberg, Peter, Heller, Raoul and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2018).
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Hum. Mutat., 39 (9).
S. 1284 - 1299.
HOBOKEN:
WILEY.
ISSN 1098-1004
2017
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
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
Yis, Uluc, Becker, Kerstin, Kurul, Semra Hiz, Uyanik, Goekhan, Bayram, Erhan, Haliloglu, Goknur, Polat, Ayse Ipek, Ayanoglu, Muge, Okur, Derya, Tosun, Ayse Fahriye, Serdaroglu, Gul, Yilmaz, Sanem, Topaloglu, Haluk, Anlar, Banu, Cirak, Sebahattin and Engel, Andrew G. (2017). Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights. J. Child Neurol., 32 (8). S. 759 - 766. THOUSAND OAKS: SAGE PUBLICATIONS INC. ISSN 1708-8283