 | Up a level |
Journal Article
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
Keller, Natalie, Mendoza-Ferreira, Natalia, Maroofian, Reza, Chelban, Viorica, Khalil, Youssef ORCID: 0000-0001-9025-3017, Mills, Philippa B., Boostani, Reza, Torbati, Paria Najarzadeh, Karimiani, Ehsan Ghayoor, Thiele, Holger ORCID: 0000-0002-0169-998X, Houlden, Henry, Wirth, Brunhilde and Karakaya, Mert
(2020).
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism.
Neuromusc. Disord., 30 (7).
S. 583 - 590.
OXFORD:
PERGAMON-ELSEVIER SCIENCE LTD.
ISSN 1873-2364