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Journal Article
Cesarato, Nicole, Wehner, Maria, Ghughunishvili, Mariam, Schmidt, Axel, Axt, Daisy, Thiele, Holger, Lentze, Michael J., Has, Cristina 
ORCID: 0000-0001-6066-507X, Geyer, Matthias ORCID: 0000-0002-7718-5002, Basmanav, Fitnat Buket and Betz, Regina C.
(2021).
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
Am. J. Med. Genet. A, 185 (12).
S. 3900 - 3905.
HOBOKEN:
WILEY.
ISSN 1552-4833
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
Schmetz, Ariane ORCID: 0000-0001-8220-7854, Xiong, Xing ORCID: 0000-0001-5728-150X, Cesarato, Nicole, Basmanav, Fitnat Buket, Gierthmuehlen, Petra, Schaper, Joerg, Schlieper, Daniel, Wehner, Maria, Thiele, Holger, Frank, Jorge, Betz, Regina C. and Redler, Silke
(2022).
Phenotype diversity associated with TP63 mutations.
J. Dtsch. Dermatol. Ges., 20 (6).
S. 872 - 876.
HOBOKEN:
WILEY.
ISSN 1610-0387