John MacMillan, M.D. (1959–2014): an inspiring example of a community clinical geneticist

Tekijä Sequeiros, Jorge
Julkaisussa J Community Genet (2015)

Guidelines for genetic counselling in ATTR amyloidosis

Tekijä Sequeiros, Jorge
Julkaisussa Orphanet J Rare Dis (2015)

EMQN Best Practice Guidelines for molecular genetic testing of SCAs

Tekijä Sequeiros, Jorge, Martindale, Joanne, Seneca, Sara
Julkaistu 2010

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

Tekijä Sequeiros, Jorge, Seneca, Sara, Martindale, Joanne
Julkaistu 2010

Genetics and ethics in Latin America

Tekijä Sequeiros, Jorge, Gibbon, Sahra, Clarke, Angus
Julkaisussa J Community Genet (2015)

Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study

Tekijä Paneque, Milena, Sequeiros, Jorge, Skirton, Heather
Julkaisussa Eur J Hum Genet (2015)

Genetic horoscopes: is it all in the genes? Points for regulatory control of direct-to-consumer genetic testing

Tekijä Patch, Christine, Sequeiros, Jorge, Cornel, Martina C
Julkaistu 2009

Direct to consumer genetic tests

Tekijä Patch, Christine, Sequeiros, Jorge, Cornel, Martina C
Julkaistu 2009

Direct to consumer genetic tests

Tekijä Patch, Christine, Sequeiros, Jorge, Cornel, Martina C
Julkaistu 2009

Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease

Tekijä Mendes, Álvaro, Paneque, Milena, Clarke, Angus, Sequeiros, Jorge
Julkaisussa Eur J Hum Genet (2018)

Doença de Machado-Joseph : tentativa de definição /

Tekijä Coutinho, Paula, Andrade, Corino, Sequeiros, Jorge, Costa Silva, Carolina
Julkaistu 1992

Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD

Tekijä Morais, Sara, Bastos-Ferreira, Rita, Sequeiros, Jorge, Alonso, Isabel
Julkaisussa Neurol Genet (2016)

Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together

Tekijä Oliveira, Carla Roma, Mendes, Álvaro, Sequeiros, Jorge, Sousa, Liliana
Julkaisussa Eur J Hum Genet (2020)

Role of older generations in the family’s adjustment to Huntington disease

Tekijä Oliveira, Carla Roma, Mendes, Álvaro, Sequeiros, Jorge, Sousa, Liliana
Julkaisussa J Community Genet (2021)

How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

Tekijä Mendes, Álvaro, Paneque, Milena, Sousa, Liliana, Clarke, Angus, Sequeiros, Jorge
Julkaisussa Eur J Hum Genet (2016)

Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A

Tekijä Pereira, Maria da Conceição, Morais, Sara, Sequeiros, Jorge, Alonso, Isabel
Julkaisussa ASN Neuro (2016)

Parkin truncating variants result in a loss-of-function phenotype

Tekijä Santos, Mariana, Morais, Sara, Pereira, Conceição, Sequeiros, Jorge, Alonso, Isabel
Julkaisussa Sci Rep (2019)

Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington’s disease, Machado-Joseph disease, and familial amyloid polyneuropathy

Tekijä Lêdo, Susana, Leite, Ângela, Souto, Teresa, Dinis, Maria A., Sequeiros, Jorge
Julkaisussa Braz J Psychiatry (2016)

Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report

Tekijä Damásio, Joana, Sardoeira, Ana, Araújo, Maria, Carvalho, Isabel, Sequeiros, Jorge, Barros, José
Julkaisussa Cerebellum Ataxias (2021)

Unravelling the epidemiology of late-onset and asymptomatic carriers of FAP ATTR V30M in a Portuguese population

Tekijä Lemos, Carolina, Coelho, Teresa, Alves-Ferreira, Miguel, Santos, Diana, Sequeiros, Jorge, Sousa, Alda
Julkaisussa Orphanet J Rare Dis (2015)