81
TITLE: Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias
AUTHORS: Sara Morais; Laure Raymond; Mathilde Mairey; Paula Coutinho; Eva Brandao; Paula Ribeiro; Jose Leal Loureiro; Jorge Sequeiros; Alexis Brice; Isabel Alonso; Giovanni Stevanin;
PUBLISHED: 2017, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 25, ISSUE: 11
INDEXED IN: Scopus WOS
83
TITLE: Risk perception in subjects at-risk for Familial Amyloidotic Polyneuropathy  Full Text
AUTHORS: Angela Leite; Dinis, Maria Alzira Pimenta ; Jorge Sequeiros; Constança Paul ;
PUBLISHED: 2017, SOURCE: UNIVERSITAS PSYCHOLOGICA, VOLUME: 16, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 1
84
TITLE: Incorporating scoring risk models for care planning of the elderly with chronic kidney disease  Full Text
AUTHORS: Santos, J; Fonseca, I ;
PUBLISHED: 2017, SOURCE: Current Gerontology and Geriatrics Research, VOLUME: 2017
INDEXED IN: Scopus CrossRef: 3
85
TITLE: Rare Neurodegenerative Diseases: Clinical and Genetic Update
AUTHORS: Antoni Matilla Duenas; Marc Corral Juan; Agusti R P Rodriguez Palmero Seuma; Dolores Vilas; Lourdes Ispierto; Sara Morais; Jorge Sequeiros; Isabel Alonso; Victor Volpini; Carmen Serrano Munuera; Guillem Pintos Morell; Ramiro Alvarez; Ivelisse Sanchez;
PUBLISHED: 2017, SOURCE: RARE DISEASES EPIDEMIOLOGY: UPDATE AND OVERVIEW, 2ND EDITION, VOLUME: 1031
INDEXED IN: WOS
86
TITLE: Hemoglobin Himeji and inconsistent hemoglobin A1c values: A case report  Full Text
AUTHORS: Guedes, V; Bettencourt Silva, R; Queirós, J; Esteves, MDL; Teles, MJ; Carvalho, D ;
PUBLISHED: 2017, SOURCE: Journal of Medical Case Reports, VOLUME: 11, ISSUE: 1
INDEXED IN: Scopus CrossRef: 4
87
TITLE: A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
AUTHORS: Seixas, AI; Loureiro, JR; Costa, C; Ordonez Ugalde, A; Marcelino, H; Oliveira, CL; Loureiro, JL; Dhingra, A; Brandao, E; Cruz, VT ; Timoteo, A; Quintans, B; Rouleau, GA; Rizzu, P; Carracedo, A; Bessa, J; Heutink, P; Sequeiros, J; Sobrido, MJ; Coutinho, P; Silveira, I; ...More
PUBLISHED: 2017, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 101, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 110
88
TITLE: Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations  Full Text
AUTHORS: Angela Leite ; Dinis, Maria Alzira Pimenta ; Jorge Sequeiros; Constança Paul ;
PUBLISHED: 2016, SOURCE: JOURNAL OF GENETIC COUNSELING, VOLUME: 25, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 6
89
TITLE: Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)  Full Text
AUTHORS: Diana Santos; Teresa Coelho; Miguel Alves Ferreira; Jorge Sequeiros; Denisa Mendonca ; Isabel Alonso; Carolina Lemos ; Alda Sousa;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 37
90
TITLE: How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence
AUTHORS: Alvaro Mendes ; Milena Paneque ; Liliana Sousa ; Angus Clarke; Jorge Sequeiros;
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 63
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