Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Wendy Mears"'
Autor:
Alexanne Cuillerier, Layla Mackay, Erika Wall, Giulia Del Gobbo, Luke Seldenthuis, Wendy Mears, Alexandre White-Brown, Laura Larrigan, David Dyment, Kym Boycott
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101092- (2024)
Externí odkaz:
https://doaj.org/article/ca8f440629d8403c88ec0714487da2dd
Autor:
Delphine Héron, Wendy Mears, Smrithi Salian, William Boyce Burns, Julia Russo, Elliot S. Stolerman, Valentina Serpieri, David A. Dyment, Philippe M. Campeau, Susanne Morlot, Kristin Herman, Thi Tuyet Mai Nguyen, Ginevra Zanni, Boris Keren, Rachel Rock, Raffaella Cusmai, Efrat Sofrin-Drucker, Hannah Wallaschek, Alison M.R. Castle, Julie R. Jones, Devon L. Johnstone, Haim Bassan
Publikováno v:
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2021, 7 (6), pp.e631. ⟨10.1212/NXG.0000000000000631⟩
Neurology Genetics, American Academy of Neurology, 2021, 7 (6), pp.e631. ⟨10.1212/NXG.0000000000000631⟩
Background and ObjectivesTo expand the clinical knowledge of GPAA1-related glycosylphosphatidylinositol (GPI) deficiency.MethodsAn international case series of 7 patients with biallelic GPAA1 variants were identified. Clinical, biochemical, and neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f35b417666bc25381eeb42bc61aaf37f
https://hal.sorbonne-universite.fr/hal-03409007
https://hal.sorbonne-universite.fr/hal-03409007
Autor:
Aren E Marshall, Nadie Rioux, Adrie D Dane, Tipu Sultan, Kristin D. Kernohan, Nataly Laflamme, Lauren Brady, Cynthia J. Curry, Taila Hartley, Kym M. Boycott, Nicolas Chrestian, Alexa Derksen, Frédéric M. Vaz, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson, Gabrielle Lemire, Yoko Ito, H. T. Hutchison, Wendy Mears, Lynn Pais, Mark A. Tarnopolsky, Valentina Stanley
Publikováno v:
American journal of human genetics, 108(10), 2017-2023. Cell Press
Am J Hum Genet
Am J Hum Genet
ABHD16A (abhydrolase domain-containing protein 16A, phospholipase) encodes the major phosphatidylserine (PS) lipase in the brain. PS lipase synthesizes lysophosphatidylserine, an important signaling lipid that functions in the mammalian central nervo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f2758737add27751db9f675bab50a1
https://pure.amc.nl/en/publications/abhd16a-deficiency-causes-a-complicated-form-of-hereditary-spastic-paraplegia-associated-with-intellectual-disability-and-cerebral-anomalies(38d751fe-7ab9-4eaf-97f5-ae00c9af11b4).html
https://pure.amc.nl/en/publications/abhd16a-deficiency-causes-a-complicated-form-of-hereditary-spastic-paraplegia-associated-with-intellectual-disability-and-cerebral-anomalies(38d751fe-7ab9-4eaf-97f5-ae00c9af11b4).html
Autor:
Alison M R, Castle, Smrithi, Salian, Haim, Bassan, Efrat, Sofrin-Drucker, Raffaella, Cusmai, Kristin C, Herman, Delphine, Heron, Boris, Keren, Devon L, Johnstone, Wendy, Mears, Susanne, Morlot, Thi Tuyet Mai, Nguyen, Rachel, Rock, Elliot, Stolerman, Julia, Russo, William Boyce, Burns, Julie R, Jones, Valentina, Serpieri, Hannah, Wallaschek, Ginevra, Zanni, David A, Dyment, Philippe M, Campeau
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and Objectives To expand the clinical knowledge of GPAA1-related glycosylphosphatidylinositol (GPI) deficiency. Methods An international case series of 7 patients with biallelic GPAA1 variants were identified. Clinical, biochemical, and ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::afde4b50de755eebf07828956cdae117
https://pubmed.ncbi.nlm.nih.gov/34703884
https://pubmed.ncbi.nlm.nih.gov/34703884
Autor:
Kym M. Boycott, Kristin D. Kernohan, Sarah M. Nikkel, Taila Hartley, Michael T. Geraghty, Christine M. Armour, Julie Richer, Wendy Mears, Gail E. Graham, Matthew A. Lines, Sergey Naumenko, David A. Dyment
Publikováno v:
American journal of medical genetics. Part A. 176(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::792cc7763ad2a60141e9f5abd64fd3eb
https://pubmed.ncbi.nlm.nih.gov/30160830
https://pubmed.ncbi.nlm.nih.gov/30160830
Autor:
Helen Clough, Wendy Mears
Publikováno v:
Open Learning: The Journal of Open, Distance and e-Learning. 30:73-85
The Open University (OU) is the UK’s largest distance education provider and has a large and growing disabled student population. Disabled user support presents particular challenges for an online library service in the distance learning environmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b672c95cea7721d182366515c43062a3
https://doi.org/10.1080/02680513.2015.1025735
https://doi.org/10.1080/02680513.2015.1025735
Publikováno v:
Open Learning: The Journal of Open, Distance and e-Learning. 22:183-194
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1ade8f589d5f5b9f6439964d71b46d2
https://doi.org/10.1080/02680510701306921
https://doi.org/10.1080/02680510701306921