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Publication date Communities Collections Article title Author(s) Journal/Conference
27 Aug 2015 BMRC Institute of Molecular and Cell Biology Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa Paulina Bahena, Sara L. Reichert, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Abigail Loh, Graham D. Wright, Jaron Liu, Elisa Rahikkala, Eniko K. Pivnick, Asim F. Choudhri, Ulrike Krüger, Tomasz Zemojtel, Conny van Ravenswaaij-Arts, Roya Mostafavi, Irene Stolte-Dijkstra, Sofie Symoens, Leila Pajunen, Lihadh Al-Gazali, David Meierhofer, Stefan Mundlos, Uwe Kornak, Peter N. Robinson, Camilo E. Villarroel, Peter Byers, Amira Masri, Stephen P. Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade The American Journal of Human Genetics
22 Jul 2014 BMRC Institute of Medical Biology Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions Ons Mamai, Lobna Boussofara, Mohamed Denguezli, Nathalie Escande-Beillard, Wahiba Kraeim, Barry Merriman, Ilhem Ben Charfeddine, Giovanni Stevanin, Sana Bouraoui, Abdelbasset Amara, Amira Mili, Rafiaa Nouira, Dorra H'mida, Badreddine Sriha, Moez Gribaa, Ali Saad, Bruno Reversade Journal of Investigative Dermatology