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Gollasch, Benjamin, Basmanav, Fitnat Buket, Nanda, Arti 
ORCID: 0000-0002-1223-3181, Fritz, Guenter ORCID: 0000-0002-4571-8812, Mahmoudi, Hassnaa, Thiele, Holger, Wehner, Maria, Wolf, Sabrina, Altmueller, Janine, Nuernberg, Peter, Frank, Jorge and Betz, Regina C.
(2015).
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
Am. J. Med. Genet. A, 167 (11).
S. 2555 - 2563.
HOBOKEN:
WILEY.
ISSN 1552-4833
Fischer, Bjoern, Dimopoulou, Aikaterini, Egerer, Johannes, Gardeitchik, Thatjana, Kidd, Alexa, Jost, Dominik, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Tantcheva-Poor, Iliana, Mangold, Elisabeth, Daumer-Haas, Cornelia, Phadke, Shubha ORCID: 0000-0002-6624-082X, Peirano, Reto I., Heusel, Julia, Desphande, Charu, Gupta, Neerja, Nanda, Arti ORCID: 0000-0002-1223-3181, Felix, Emma, Berry-Kravis, Elisabeth, Kabra, Madhulika, Wevers, Ron A. ORCID: 0000-0003-2278-9746, van Maldergem, Lionel, Mundlos, Stefan, Morava, Eva and Kornak, Uwe
(2012).
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Hum. Genet., 131 (11).
S. 1761 - 1774.
NEW YORK:
SPRINGER.
ISSN 0340-6717