4
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
6
TITLE: Next generation sequencing performance for the detection of mutations in plasma cell free DNA
AUTHORS: Ana Justino; Gabriela Fernandes; Ana Barroso; Barbara Parente; Venceslau Hespanhol ; Jose C Machado ; Jose L Costa ;
PUBLISHED: 2015, SOURCE: 106th Annual Meeting of the American-Association-for-Cancer-Research (AACR) in CANCER RESEARCH, VOLUME: 75, ISSUE: 15 Supplement
INDEXED IN: WOS CrossRef
7
TITLE: Detection of somatic alterations in plasma from lung cancer patients
AUTHORS: Jose L Costa; Ana Justino; Ana Barroso; Barbara Parente; Jose C Machado ;
PUBLISHED: 2014, SOURCE: 105th Annual Meeting of the American-Association-for-Cancer-Research (AACR) in CANCER RESEARCH, VOLUME: 74, ISSUE: 19
INDEXED IN: WOS CrossRef
9
TITLE: Well-differentiated papillary mesothelioma: clustering in a Portuguese family with a germline BAP1 mutation
AUTHORS: Ribeiro, C ; Campelos, S; Moura, CS; Machado, JC ; Justino, A; Parente, B;
PUBLISHED: 2013, SOURCE: ANNALS OF ONCOLOGY, VOLUME: 24, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 42
10
TITLE: Detection of Somatic Alterations in Plasma from Lung Cancer Patients: A Pilot Study
AUTHORS: Costa, J; Justino, A; Barroso, A; Parente, B; Machado, JC ;
PUBLISHED: 2013, SOURCE: Annual Meeting of the Association-for-Molecular-Pathology (AMP) in JOURNAL OF MOLECULAR DIAGNOSTICS, VOLUME: 15, ISSUE: 6
INDEXED IN: WOS