A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry.

Napier, Kathryn R; Tones, Megan; Simons, Chloe; Heussler, Helen; Hunter, Adam A; Cross, Meagan; Bellgard, Matthew I

Napier, Kathryn R; Tones, Megan; Simons, Chloe; Heussler, Helen; Hunter, Adam A; Cross, Meagan; Bellgard, Matthew I.

Afiliação

Napier KR; Centre for Comparative Genomics, Murdoch University, Perth, WA, 6150, Australia.
Tones M; Mater Research, Centre for Children's Health Research, South Brisbane, QLD, 4101, Australia.
Simons C; Foundation for Angelman Syndrome Therapeutics Australia, Salisbury, QLD, 4107, Australia.
Heussler H; Mater Research, University of Queensland, Children's Health Queensland Hospital and Health Service, Brisbane, QLD, 4101, Australia.
Hunter AA; Centre for Comparative Genomics, Murdoch University, Perth, WA, 6150, Australia.
Cross M; Foundation for Angelman Syndrome Therapeutics Australia, Salisbury, QLD, 4107, Australia.
Bellgard MI; Centre for Comparative Genomics, Murdoch University, Perth, WA, 6150, Australia. mbellgard@ccg.murdoch.edu.au.

Orphanet J Rare Dis ; 12(1): 134, 2017 08 01.

Article em En | MEDLINE | ID: mdl-28764722

Assuntos

Síndrome de Angelman/genética; Saúde Global; Internet; Sistema de Registros; Síndrome de Angelman/epidemiologia; Humanos

Palavras-chave

Angelman syndrome; Disease registry; Global; Interoperable; Open source; Patient reported; Rare disease; Registry framework

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sistema de Registros / Saúde Global / Síndrome de Angelman / Internet Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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