11
TITLE: Cockayne Syndrome: a new phenotype related to a already described variant  Full Text
AUTHORS: Pedro M Almeida; Sara M Ribeiro; Isabel Monteiro; Fabiana Ramos; Jorge Saraiva; Lina Ramos;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
12
TITLE: Interstitial triplication 20p11.22p11.21, in a girl with development delay and vertebral anomalies, disclosed by array-CGH  Full Text
AUTHORS: Eunice Matoso; Lina Ramos; Jorge Saraiva; Alexandra Estevinho; Susana I Ferreira; Joana B Melo; Isabel M Carreira;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
14
TITLE: Coffin-lowry syndrome as a rare cause of X-linked drop attacks  Full Text
AUTHORS: Bras, A; Teotonio, RMMDR; Ramos, L; Fineza Cruz, IMF; Bento, C;
PUBLISHED: 2018, SOURCE: 4th Congress of the European-Academy-of-Neurology (EAN) in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 25
INDEXED IN: WOS
15
TITLE: Classification of Huntington's disease stage with support vector machines: A study on oculomotor performance
AUTHORS: Angela Miranda; Rui Lavrador; Filipa Julio; Cristina Januario; Miguel Castelo Branco; Gina Caetano;
PUBLISHED: 2016, SOURCE: Behavior Research Methods, VOLUME: 48, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 1
17
TITLE: Phenotyping GABA transaminase deficiency: a case description and literature review  Full Text
AUTHORS: Pedro Louro ; Lina Ramos; Conceicao Robalo; Candida Cancelinha; Alexandra Dinis; Ricardo Veiga; Raquel Pina; Olinda Rebelo; Ana Pop; Luisa Diogo; Gajja S Salomons; Paula Garcia;
PUBLISHED: 2016, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 4
18
TITLE: Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene  Full Text
AUTHORS: Joana B Melo; Alexandra Estevinho; Jorge Saraiva; Lina Ramos; Isabel M Carreira;
PUBLISHED: 2015, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 9
19
TITLE: Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
AUTHORS: Charlotte W Ockeloen; Marjolein H Willemsen; Sonja de Munnik; Bregje W M van Bon; Nicole de Leeuw; Aad Verrips; Sarina G Kant; Elizabeth A Jones; Han G Brunner; Rosa L E van Loon; Eric E J Smeets; Mieke M van Haelst; Gijs van Haaften; Ann Nordgren; Helena Malmgren; Giedre Grigelioniene; Sascha Vermeer; Pedro Louro ; Lina Ramos; Thomas J J Maal; Celeste C van Heumen; Helger G Yntema; Carine E L Carels; Tjitske Kleefstra; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef
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