 | Up a level |
Journal Article
Angius, Andrea 
ORCID: 0000-0003-2596-6461, Uva, Paolo ORCID: 0000-0002-9524-8492, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana ORCID: 0000-0001-9946-1509, Loi, Angela, Marcia, Loredana, Hoehne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara ORCID: 0000-0002-7321-2384, Atalay, Hatice Tuba ORCID: 0000-0002-1847-615X, Inan, Sibel, El Assy, Osama, Smit, Leo M. E., Okur, Ilyas, Boduroglu, Koray ORCID: 0000-0001-6260-1942, Utine, Gulen Eda, Kilic, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura ORCID: 0000-0001-9128-8537 and Rutsch, Frank
(2016).
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Am. J. Hum. Genet., 99 (1).
S. 236 - 246.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Coelho, David ORCID: 0000-0001-7010-5789, Kim, Jaeseung C., Miousse, Isabelle R. ORCID: 0000-0001-6543-3219, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nuernberg, Peter, Thiele, Holger, Robenek, Horst, Hoehne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A., Majewski, Jacek, Rosenblatt, David S., Fowler, Brian, Rutsch, Frank and Baumgartner, Matthias R.
(2012).
Mutations in ABCD4 cause a new inborn error of vitamin B-12 metabolism.
Nature Genet., 44 (10).
S. 1152 - 1158.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1061-4036
Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd ORCID: 0000-0002-6555-8174, Thiele, Holger, Nuernberg, Peter, Hoehne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette and Hennekam, Raoul C.
(2015).
A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome.
Am. J. Hum. Genet., 96 (2).
S. 275 - 283.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd ORCID: 0000-0002-6555-8174, Thiele, Holger, Nuernberg, Peter, Hoehne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette and Hennekam, Raoul C.
(2015).
A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome.
Am. J. Hum. Genet., 96 (2).
S. 275 - 283.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Stella, Jacqueline, Buers, Insa, van de Wetering, Koen, Hoehne, Wolfgang, Rutsch, Frank and Nitschke, Yvonne (2016). Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1. Hum. Mutat., 37 (11). S. 1190 - 1202. HOBOKEN: WILEY-BLACKWELL. ISSN 1098-1004