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José Carlos Lemos Machado

AuthID: R-000-86X

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Confirmed Publications: 306

91

TITLE: New massive parallel sequencing approach improves the genetic characterization of congenital myopathies
AUTHORS: Jorge Oliveira; Ana Goncalves ; Ricardo Taipa; Manuel Melo Pires; Marcia E Oliveira; Jose Luis Costa; Jose Carlos Machado ; Elmira Medeiros; Teresa Coelho; Manuela Santos; Rosario Santos; Mario Sousa ;
PUBLISHED: 2016, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 6

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92

TITLE: The genetics of hereditary myopathies revisited by massive parallel sequencing Full Text
AUTHORS: Jorge Oliveira; Conceicai Egas; Jose C Machado ; Mario Sousa ; Rosario Santos;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10

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93

TITLE: THE IMPACT ON THE QUALITY AND SATISFACTION OF THE TESTS OF AN UNCUED QUESTION FORMAT VERSUS A SHORT ANSWER QUESTION FORMAT
AUTHORS: Fevereiro, B; Goncalves, FR ; Torres Guimaraes, B; Tomaz, DF; Vasconcelos Oliveira, AC; Machado, JC ; Severo, M ;
PUBLISHED: 2016, SOURCE: 10th International Technology, Education and Development Conference (INTED) in INTED2016: 10TH INTERNATIONAL TECHNOLOGY, EDUCATION AND DEVELOPMENT CONFERENCE

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94

TITLE: The number of Helicobacter pylori CagA EPIYA C tyrosine phosphorylation motifs influences the pattern of gastritis and the development of gastric carcinoma (vol 60, pg 992, 2012) Full Text
AUTHORS: Ferreira, RM; Machado, JC ; Leite, M; Carneiro, F ; Figueiredo, C;
PUBLISHED: 2016, SOURCE: HISTOPATHOLOGY, VOLUME: 68, ISSUE: 4

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95

TITLE: Combined Influence of EGF+61G > A and TGFB+869T > C Functional Polymorphisms in Renal Cell Carcinoma Progression and Overall Survival: The Link to Plasma Circulating MiR-7 and MiR-221/222 Expression Full Text
AUTHORS: Teixeira, AL; Dias, F; Ferreira, M; Gomes, M; Santos, JI; Lobo, F; Mauricio, J; Machado, JC ; Rui Medeiros ;
PUBLISHED: 2015, SOURCE: PLOS ONE, VOLUME: 10, ISSUE: 4

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96

TITLE: Comprehensive genetic profiling of chromosomal translocations in lung cancer tumors: development and validation of a next-generation sequencing panel in an international multicenter study
AUTHORS: Pierre Laurent Puigi; Jose Louis Costa; Orla Sheils; Bastiaan Tops; Andrea Mafficini; Delphine Le Corre; Henriette Kurth; Anna Maria Rachiglio; Helene Blons; Eliana Amato; Christoph Noppen; Renato Franco; Anne Reiman; Roy Bastien; Noah Welker; Jose Carlos Machado ; Ian Cree; Harriet Feilotter; Marjolijn Ligtenberg; Aldo Scarpa; Nicola Normanno; Kazuto Nishio; Cecily Vaughn; ...More
PUBLISHED: 2015, SOURCE: 106th Annual Meeting of the American-Association-for-Cancer-Research (AACR) in CANCER RESEARCH, VOLUME: 75, ISSUE: 15 Supplement

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97

TITLE: Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes Full Text
AUTHORS: Ana Justino; Patricia Dias; Maria Joao Pina; Sonia Sousa; Luis Cirnes; Ana Berta Sousa; Jose Carlos Machado ; Jose Luis Costa;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 3

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98

TITLE: Genetic Heterogeneity in Colorectal Cancer and its Clinical Implications Full Text
AUTHORS: Barranha, R ; Costa, JL; Carneiro, F ; Machado, JC ;
PUBLISHED: 2015, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 28, ISSUE: 3

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99

TITLE: Genetic heterogeneity in colorectal cancer and its clinical implications [Heterogeneidade genética no cancro colorrectal e as suas implicações clínicas]
AUTHORS: Barranha, R; Costa, JL; Carneiro, F ; Machado, JC ;
PUBLISHED: 2015, SOURCE: Acta Medica Portuguesa, VOLUME: 28, ISSUE: 3

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100

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

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