 | Up a level |
2020
Neuhofer, Christiane M. 
ORCID: 0000-0002-5037-4444, Funke, Rudolf, Wilken, Bernd, Knaus, Alexej, Altmueller, Janine, Nuernberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter and Pauli, Silke
(2020).
A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.
Mol. Syndromol., 11 (1).
S. 30 - 38.
BASEL:
KARGER.
ISSN 1661-8777
Ufartes, Roser, Berger, Hanna, Till, Katharina, Salinas, Gabriela, Sturm, Marc ORCID: 0000-0002-6552-8362, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Funke, Rudolf, Apeshiotis, Neophytos, Langen, Hendrik, Wollnik, Bernd, Borchers, Annette and Pauli, Silke
(2020).
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Hum. Genet., 139 (11).
S. 1363 - 1380.
NEW YORK:
SPRINGER.
ISSN 1432-1203
2019
Pauli, Silke, Altmueller, Janine, Schroeder, Simone, Ohlenbusch, Andreas, Dreha-Kulaczewski, Steffi, Bergmann, Carsten, Nuernberg, Peter, Thiele, Holger, Li, Yun, Wollnik, Bernd and Brockmann, Knut (2019). Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J. Med. Genet., 56 (4). S. 261 - 265. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244
2014
Schulz, Yvonne, Freese, Luisa, Maenz, Johanna, Zoll, Barbara, Voelter, Christiane, Brockmann, Knut, Boegershausen, Nina, Becker, Jutta, Wollnik, Bernd and Pauli, Silke (2014). CHARGE and Kabuki syndromes: a phenotypic and molecular link. Hum. Mol. Genet., 23 (16). S. 4396 - 4406. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083