 | Up a level |
Journal Article
Delle Vedove, Andrea, Storbeck, Markus, Heller, Raoul, Hoelker, Irmgard, Hebbar, Malavika, Shulda, Anju, Magnusson, Olafur, Cirak, Sebahattin, Girisha, Katta M., O'Driscoll, Mary, Loeys, Bart 
ORCID: 0000-0003-3703-9518 and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2016).
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
Am. J. Hum. Genet., 99 (5).
S. 1206 - 1217.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
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
Komlosi, Katalin, Hadzsiev, Kinga, Garbes, Lutz, Carrera, Lilian A. Martinez, Pal, Endre ORCID: 0000-0001-6525-0754, Sigurosson, Johann Haukur, Magnusson, Olafur, Melegh, Bela and Wirth, Brunhilde ORCID: 0000-0003-4051-5191
(2014).
Exome sequencing identifies Laing distal myopathy MYH7 meutation in a Roma family previously diagnosed with distal neuronopathy.
Neuromusc. Disord., 24 (2).
S. 156 - 162.
OXFORD:
PERGAMON-ELSEVIER SCIENCE LTD.
ISSN 1873-2364