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TITLE: Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome  Full Text
AUTHORS: Lisenka E L M Vissers; Monica Bonetti; Jeroen Paardekooper Overman; Willy M Nillesen; Suzanna G M Frints; Joep de Ligt; Giuseppe Zampino; Ana Justino; Jose C Machado ; Marga Schepens; Han G Brunner; Joris A Veltman; Hans Scheffer; Piet Gros; Jose L Costa; Marco Tartaglia; Ineke van der Burgt; Helger G Yntema; Jeroen den Hertog;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 43
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TITLE: Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect  Full Text
AUTHORS: Bram Perdu; Fenna de Freitas; Suzanne G M Frints; Meyke Schouten; Connie Schrander Stumpel; Mafalda Barbosa; Jorge Pinto Basto; Margarida Reis Lima; Marie Christine de Vernejoul; Kristin Becker; Marie Louise Freckmann; Kathlijn Keymolen; Eric Haan; Ravi Savarirayan; Rainer Koenig; Bernhard Zabel; Filip M Vanhoenacker; Wim Van Hul;
PUBLISHED: 2010, SOURCE: JOURNAL OF BONE AND MINERAL RESEARCH, VOLUME: 25, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef