12
TITLE: A NONSENSE PORCN MUTATION IN SEVERE FOCAL DERMAL HYPOPLASIA WITH NATAL TEETH  Full Text
AUTHORS: Cristina Dias; Jorge Basto; Odilia Pinho; Carla Barbedo; Marcia Martins; Dorothea Bornholdt; Ana Fortuna; Karl Heinz Grzeschik; Margarida Lima;
PUBLISHED: 2010, SOURCE: FETAL AND PEDIATRIC PATHOLOGY, VOLUME: 29, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
13
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
14
TITLE: Muenke Syndrome With Osteochondroma  Full Text
AUTHORS: Mafalda Barbosa; Maria do Rosario Almeida; Margarida Reis Lima; Jorge Pinto Basto; Heloisa Goncalves dos Santos;
PUBLISHED: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
15
TITLE: A whole genome screen for association with multiple sclerosis in Portuguese patients  Full Text
AUTHORS: Santos, M; Pinto Basto, J; Rio, ME; Sa, MJ ; Valenca, A; Sa, A; Dinis, J; Figueiredo, J; de Almeida, LB; Coelho, I; Sawcer, S; Setakis, E; Compston, A; Sequeiros, J ; Maciel, P ;
PUBLISHED: 2003, SOURCE: JOURNAL OF NEUROIMMUNOLOGY, VOLUME: 143, ISSUE: 1-2
INDEXED IN: Scopus WOS CrossRef: 10
16
TITLE: Inherited and acquired risk factors and their combined effects in pediatric stroke  Full Text
AUTHORS: Barreirinho, S; Ferro, A; Santos, M; Costa, E ; Pinto Basto, J; Sousa, A ; Sequeiros, J ; Maciel, P ; Barbot, C ; Barbot, J;
PUBLISHED: 2003, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 28, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 56
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