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pro vyhledávání: '"Laurie, Steve"'
Rare disease (RD) research faces particular challenges because patient populations, clinical expertise, and research communities are small in number and highly fragmented both geographically and in terms of medical specialty. The scarcity of rare dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d48cd0f150d6684e76292e9b000dc539
Rare disease (RD) research faces particular challenges because patient populations, clinical expertise, and research communities are small in number and highly fragmented both geographically and in terms of medical specialty. The scarcity of rare dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c638600c3b512140407ecaf3da654ee
Autor:
McMacken, Grace, Lochmüller, Hanns, Bansagi, Boglarka, Pyle, Angela, Lochmüller, Angela, Chinnery, Patrick F., Laurie, Steve, Beltran, Sergi, Matalonga, Leslie, Horvath, Rita
Funder: Lily Foundation
Funder: Canadian Institutes of Health Research and Muscular Dystrophy Canada
Background: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spas
Funder: Canadian Institutes of Health Research and Muscular Dystrophy Canada
Background: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b8eca48b55e5d5dc8215bf9387279c9
Autor:
McMacken, Grace, Lochmüller, Hanns, Bansagi, Boglarka, Pyle, Angela, Lochmüller, Angela, Chinnery, Patrick F., Laurie, Steve, Beltran, Sergi, Matalonga, Leslie, Horvath, Rita
Funder: Lily Foundation
Funder: Canadian Institutes of Health Research and Muscular Dystrophy Canada
Background: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spas
Funder: Canadian Institutes of Health Research and Muscular Dystrophy Canada
Background: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42cc4b1f6191e20c78e595642d0b03d1
Autor:
McMacken, Grace, Lochmüller, Hanns, Bansagi, Boglarka, Pyle, Angela, Lochmüller, Angela, Chinnery, Patrick F, Laurie, Steve, Beltran, Sergi, Matalonga, Leslie, Horvath, Rita
BACKGROUND: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular diagnosis is based on gene pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9c631e68dbd5335cd9574fe07e83a17