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Journal Article
Paolacci, Stefano 
ORCID: 0000-0002-5551-7520, Li, Yun, Agolini, Emanuele ORCID: 0000-0001-6543-6225, Bellacchio, Emanuele ORCID: 0000-0002-2757-849X, Arboleda-Bustos, Carlos E., Carrero, Dido, Bertola, Debora, Al-Gazali, Lihadh, Alders, Mariel, Altmueller, Janine, Arboleda, Gonzalo, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Ciolfi, Andrea, Gillessen-Kaesbach, Gabriele, Krieg, Thomas, Mohammed, Shehla, Mueller, Christian, Noyelli, Antonio, Ortega, Jenny, Sandoval, Adrian, Velasco, Gloria, Yigit, Goekhan, Arboleda, Humberto, Lopez-Otin, Carlos ORCID: 0000-0001-6964-1904, Wollnik, Bernd, Tartaglia, Marco ORCID: 0000-0001-7736-9672 and Hennekam, Raoul C.
(2018).
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
J. Med. Genet., 55 (12).
S. 837 - 846.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
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