81
TITLE: Proposal of a Portuguese Tool for Quality Assessment of Genetic Counselling: a New Tool for Healthcare Professionals  Full Text
AUTHORS: Paneque, M ; Costa, C; Lemos, C ; Alves Ferreira, M; Sequeiros, J; Lemos, MS;
PUBLISHED: 2018, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 31, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
82
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
83
TITLE: A challenging coexistence of central diabetes insipidus and cerebral salt wasting syndrome: A case report  Full Text
AUTHORS: Costa, MM; Esteves, C; Castedo, JL; Pereira, J; Carvalho, D ;
PUBLISHED: 2018, SOURCE: Journal of Medical Case Reports, VOLUME: 12, ISSUE: 1
INDEXED IN: Scopus CrossRef: 14
84
TITLE: Investigation on modulation of DNA repair pathways in Chinese MJD patients  Full Text
AUTHORS: Wang, CR; Chen, Z; Peng, HR; Peng, Y; Zhou, X; Yang, HH; Wang, PZ; Li, TJ; Hou, XC; Qiu, R; Xia, K; Sequeiros, J; Tang, BS; Jiang, H;
PUBLISHED: 2018, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 71
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID
87
TITLE: A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37  Full Text
AUTHORS: Loureiro, JR; Oliveira, CL; Sequeiros, J; Silveira, I;
PUBLISHED: 2018, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 63, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
88
TITLE: Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning?  Full Text
AUTHORS: Alice Lopes; Carla Rodrigues; Isabel Fonseca ; Alexandra Sousa; Margarida Branco; Teresa Coelho; Jorge Sequeiros; Paula Freitas;
PUBLISHED: 2018, SOURCE: CLINICAL GENETICS, VOLUME: 94, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
89
TITLE: Communication of Information about Genetic Risks: Putting Families at the Center  Full Text
AUTHORS: Alvaro Mendes ; Alison Metcalfe; Milena Paneque ; Liliana Sousa ; Angus J Clarke; Jorge Sequeiros;
PUBLISHED: 2018, SOURCE: FAMILY PROCESS, VOLUME: 57, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 38
IN MY: ORCID
90
TITLE: Genetic modifiers of age-at-onset in polyglutamine diseases  Full Text
AUTHORS: Chen, Z; Sequeiros, J; Tang, BS; Jiang, H;
PUBLISHED: 2018, SOURCE: AGEING RESEARCH REVIEWS, VOLUME: 48
INDEXED IN: Scopus WOS CrossRef: 22
IN MY: ORCID
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