Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Item Type | Date | No Grouping
Number of items: 10.

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

Hussain, Muhammad S., Baig, Shahid M., Neumann, Sascha, Peche, Vivek S., Szczepanski, Sandra, Nuernberg, Gudrun, Tariq, Muhammad ORCID: 0000-0002-5334-403X, Jameel, Muhammad, Khan, Tahir N., Fatima, Ambrin, Malik, Naveed A., Ahmad, Ilyas, Altmueller, Janine, Frommolt, Peter ORCID: 0000-0002-1966-8014, Thiele, Holger, Hoehne, Wolfgang, Yigit, Goekhan, Wollnik, Bernd, Neubauer, Bernd A., Nuernberg, Peter and Noegel, Angelika A. (2013). CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum. Mol. Genet., 22 (25). S. 5199 - 5215. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Jurkute, Neringa ORCID: 0000-0002-3092-7451, Leu, Costin, Pogoda, Hans-Martin, Arno, Gavin, Robson, Anthony G., Nuernberg, Gudrun, Altmueller, Janine, Thiele, Holger, Motameny, Susanne, Toliat, Mohammad Reza, Powell, Kate, Hoehne, Wolfgang, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Hammerschmidt, Matthias, Nuernberg, Peter, Yu-Wai-Man, Patrick and Votruba, Marcela ORCID: 0000-0002-7680-9135 (2019). SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann. Neurol., 86 (3). S. 368 - 384. HOBOKEN: WILEY. ISSN 1531-8249

Khan, Muzammil A., Rupp, Verena M., Orpinell, Meritxell, Hussain, Muhammad S., Altmueller, Janine, Steinmetz, Michel O., Enzinger, Christian, Thiele, Holger, Hoehne, Wolfgang, Nuernberg, Gudrun, Baig, Shahid M., Ansar, Muhammad ORCID: 0000-0001-5891-7063, Nuernberg, Peter, Vincent, John B., Speicher, Michael R., Goenczy, Pierre and Windpassinger, Christian (2014). A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Hum. Mol. Genet., 23 (22). S. 5940 - 5950. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Bicknell, Louise S., Leitch, Andrea, Nuernberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E., Hunt, David, Khan, Fawad, Ali, Zafar ORCID: 0000-0002-2389-3337, Tinschert, Sigrid, Ding, James ORCID: 0000-0001-7273-9646, Keith, Charlotte, Harley, Margaret E., Heyn, Patricia, Mueller, Rolf, Hoffmann, Ingrid, Cormier-Daire, Valerie, Dollfus, Helene, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana ORCID: 0000-0002-8467-4728, Mendoza-Londono, Roberto, Moore, Anthony T., Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmueller, Janine, Hoehne, Wolfgang, Hurles, Matthew E., Noegel, Angelika Anna, Baig, Shahid Mahmood, Nuernberg, Peter and Jackson, Andrew P. (2014). Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nature Genet., 46 (12). S. 1283 - 1293. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Moawia, Abubakar, Shaheen, Ranad, Rasool, Sajida, Waseem, Syeda Seema, Ewida, Nour, Budde, Birgit, Kawalia, Amit, Motameny, Susanne, Khan, Kamal, Fatima, Ambrin, Jameel, Muhammad, Ullah, Farid, Akram, Talia, Ali, Zafar, Abdullah, Uzma, Irshad, Saba, Hoehne, Wolfgang, Noegel, Angelika Anna, Al-Owain, Mohammed, Hoertnagel, Konstanze, Stoebe, Petra, Baig, Shahid Mahmood, Nuernberg, Peter, Alkuraya, Fowzan Sami, Hahn, Andreas and Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 (2017). Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann. Neurol., 82 (4). S. 562 - 578. HOBOKEN: WILEY. ISSN 1531-8249

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

This list was generated on Thu Oct 28 11:31:54 2021 CEST.