Browsing by Author Pais, Lynn S.

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TitleAuthor(s)Issue Date
 
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Journal:Neuron
Chai, GuoliangWebb, AliceLi, ChenAntaki, DannyLee, SangmoonBreuss, Martin W.Lang, NhiStanley, ValentinaAnzenberg, PaulaYang, XiaoxuMarshall, TrevorGaffney, PatrickWierenga, Klaas J.Chung, Brian Hon YinTsang, Mandy Ho YinPais, Lynn S.Lovgren, Alysia KernVanNoy, Grace E.Rehm, Heidi L.Mirzaa, GhaydaLeon, EybyDiaz, JullianneNeumann, AlexanderKalverda, Arnout P.Manfield, Iain W.Parry, David A.Logan, Clare V.Johnson, Colin A.Bonthron, David T.Valleley, Elizabeth M.A.Issa, Mahmoud Y.Abdel-Ghafar, Sherif F.Abdel-Hamid, Mohamed S.Jennings, PatriciaZaki, Maha S.Sheridan, EamonnGleeson, Joseph G.
20-Jan-2021
 
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
Journal:Journal of Medical Genetics
Velmans, ClaraO'Donnell-Luria, Anne H.Argilli, EmanuelaTran Mau-Them, FredericVitobello, AntonioChan, Marcus C.Y.Fung, Jasmine Lee FongRech, MeganAbicht, AngelaAubert Mucca, MarionCarmichael, JasonChassaing, NicolasClark, RobinCoubes, ChristineDenommé-Pichon, Anne SophieDe Dios, John KarlEngland, EleinaFunalot, BenoitGerard, MarionJoseph, MariesKennedy, ColleenKumps, CamilleWillems, MarjolaineVan De Laar, Ingrid M.B.H.Aarts-Tesselaar, CoranneVan Slegtenhorst, MarjonLehalle, DaphnéLeppig, KathleenLessmeier, LennartPais, Lynn S.Paterson, HeatherRamanathan, SubhadraRodan, Lance H.Superti-Furga, AndreaChung, Brian H.Y.Sherr, ElliottNetzer, ChristianSchaaf, Christian P.Erger, Florian
1-Jul-2022
Showing results 1 to 2 of 2