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TITLE: Detection of copy number variations in rare Mendelian disorders using whole exome sequencing  Full Text
AUTHORS: Susana Sousa; Paulo Silva; Susana Barbosa; Ana Lopes; Ana Filipa Brandao; Patricia Arinto; Sara Morais; Isabel Alonso; Jorge Sequeiros;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
2
TITLE: Spastic-ataxia in a Portuguese cohort of hereditary ataxias  Full Text
AUTHORS: Damasio, J; Alonso, I; Barbot, C; Brandao, AF; Sardoeira, A; Pina, S; Coutinho, P; Barros, J; Sequeiros, J;
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
INDEXED IN: WOS
3
TITLE: A novel TMEM240 variant in SCA21 without cognitive impairment  Full Text
AUTHORS: Damasio, J; Alonso, I; Sardoeira, A; Brandao, AF; Dias, DC; Sequeiros, J; Barros, José ;
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
INDEXED IN: WOS
4
TITLE: Three years molecular diagnosis of hereditary ataxias with NGS: benefits and challenges  Full Text
AUTHORS: Arinto, P; Brandao, AF; Silva, P; Damasio, J; Barros, J; Alonso, I; Sequeiros, J;
PUBLISHED: 2018, SOURCE: 50th European-Society-of-Human-Genetics (ESHG) Conference in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 26
INDEXED IN: WOS
7
TITLE: FATIGUE TEST ON A 3-ELEMENT IMPLANT BRIDGE COMBINING A CONVENTIONAL AND A DYNAMIC ABUTMENT
AUTHORS: Jose Ferreira; Marta Oliveira; Nannan N Song; Margarida Machado; Andre Correia ; Ana Reis;
PUBLISHED: 2015, SOURCE: 6th International Conference on Mechanics and Materials in Design (M2D) in M2D2015: PROCEEDINGS OF THE 6TH INTERNATIONAL CONFERENCE ON MECHANICS AND MATERIALS IN DESIGN
INDEXED IN: WOS
8
TITLE: COMBINED SURFACE CONTACT FATIGUE AND WEAR IN SPUR GEARS
AUTHORS: Jose A Brandao; Jorge H O Seabra ; Manuel J D Castro ; Ramiro Martins ;
PUBLISHED: 2015, SOURCE: 6th International Conference on Mechanics and Materials in Design (M2D) in M2D2015: PROCEEDINGS OF THE 6TH INTERNATIONAL CONFERENCE ON MECHANICS AND MATERIALS IN DESIGN
INDEXED IN: WOS
10
TITLE: Novel Li3ClO based glasses with superionic properties for lithium batteries  Full Text
AUTHORS: M H Braga ; Ferreira, JA; Stockhausen, V; Oliveira, JE ; El Azab, A;
PUBLISHED: 2014, SOURCE: JOURNAL OF MATERIALS CHEMISTRY A, VOLUME: 2, ISSUE: 15
INDEXED IN: Scopus WOS CrossRef: 71
Page 1 of 2. Total results: 15.