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TÍTULO: Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome  Full Text
AUTORES: 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;
PUBLICAÇÃO: 2015, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, NÚMERO: 3
INDEXADO EM: Scopus WOS CrossRef: 43
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TÍTULO: Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism  Full Text
AUTORES: David A Koolen; Juliette Dupont; Nicole de Leeuw; Lisenka E L M Vissers; Simone P A van den Heuvel; Alyson Bradbury; James Steer; Arjan P M de Brouwer; Leo P ten Kate; Willy M Nillesen; Bert B A de Vries; Michael J Parker;
PUBLICAÇÃO: 2012, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 20, NÚMERO: 7
INDEXADO EM: Scopus WOS CrossRef