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Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation studyInaba, Yoshimi ; Herlihy, Amy S ; Schwartz, Charles E ; Skinner, Cindy ; Bui, Quang M ; Cobb, Joanna ; Shi, Elva Z ; Francis, David ; Arvaj, Alison ; Amor, David J ; Pope, Kate ; Wotton, Tiffany ; Cohen, Jonathan ; Hewitt, Jacqueline K ; Hagerman, Randi J ; Metcalfe, Sylvia A ; Hopper, John L ; Loesch, Danuta Z ; Slater, Howard R ; Godler, David EGenetics in medicine, 2013-04, Vol.15 (4), p.290-298 [Periódico revisado por pares]United States: Elsevier LimitedSem texto completo |
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Material Type: Artigo
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Intranasal Infection of Ferrets with SARS-CoV-2 as a Model for Asymptomatic Human InfectionEverett, Helen E ; Lean, Fabian Z X ; Byrne, Alexander M P ; van Diemen, Pauline M ; Rhodes, Shelley ; James, Joe ; Mollett, Benjamin ; Coward, Vivien J ; Skinner, Paul ; Warren, Caroline J ; Bewley, Kevin R ; Watson, Samantha ; Hurley, Shellene ; Ryan, Kathryn A ; Hall, Yper ; Simmons, Hugh ; Núñez, Alejandro ; Carroll, Miles W ; Brown, Ian H ; Brookes, Sharon MViruses, 2021-01, Vol.13 (1), p.113 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Differential flotation of pyrite and Arsenopyrite: Effect of pulp aeration and the critical importance of collector concentrationForson, P. ; Zanin, M. ; Skinner, W. ; Asamoah, R.Minerals engineering, 2022-03, Vol.178, p.107421, Article 107421 [Periódico revisado por pares]Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Gene‐targeted therapies: Towards equitable development, diagnosis, and accessGaviglio, Amy M. ; Skinner, Mark W. ; Lou, Lily J. ; Finkel, Richard S. ; Augustine, Erika F. ; Goldenberg, Aaron J.American journal of medical genetics. Part C, Seminars in medical genetics, 2023-03, Vol.193 (1), p.56-63Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysisGodler, David E. ; Inaba, Yoshimi ; Schwartz, Charles E. ; Bui, Quang M. ; Shi, Elva Z. ; Li, Xin ; Herlihy, Amy S. ; Skinner, Cindy ; Hagerman, Randi J. ; Francis, David ; Amor, David J. ; Metcalfe, Sylvia A. ; Hopper, John L. ; Slater, Howard R.Expert reviews in molecular medicine, 2015-07, Vol.17, p.e13-e13, Article e13 [Periódico revisado por pares]Cambridge, UK: Cambridge University PressTexto completo disponível |
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Material Type: Artigo
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Scintigraphy of acute inflammatory lesions in rats with radiolabelled recombinant human neutrophil-activating peptide-2HAY, R V ; SKINNER, R S ; NEWMAN, O C ; KUNKEL, S L ; LYLE, L R ; SHAPIRO, B ; GROSS, M DNuclear medicine communications, 2002-04, Vol.23 (4), p.367-372 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & Wilkins, IncSem texto completo |
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Material Type: Artigo
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The 36th American Cytogenetics ConferenceE. Chevret ; E.V. Volpi ; D. Sheer ; G.C. Webb ; S. Lok ; R.M. Hope ; H. Turnbull ; A.C. Jelmberg ; C. Lindbjerg Andersen ; M. Østergaard ; B. Pedersen ; J. Koch ; N.L. Lopez-Corrales ; A.L. Loudon ; C.S. Haley ; A.L. Archibald ; A.W.I. Lo ; K.J. Fowler ; N.C. Popescu ; D.S. Haines ; M. Breen ; R.H. Martin ; H. Hayes ; J. Bonfils ; M. Faure ; I. Papet ; G.P. Di Meo ; A. Perucatti ; R. Shamsadin ; I.M. Adham ; G. von Beust ; W. Engel ; J. Bernardino ; N. Vogt ; D. Lefrançois ; B. Dutrillaux ; D. Incarnato ; E.P. Cribiu ; S. Kollers ; L. Bartoloni ; H.M. Mitchison ; E. Chung ; C. Gehrig ; C. Rossier ; C.D. DeLozier-Blanchet ; J.-L. Blouin ; R.M. Gardiner ; S.E. Antonarakis ; M.F. Seldin ; H.G. Nothwang ; S.M. van der Maarel ; S. Kübart ; L. Rießelmann ; C. Menzel ; B. Hinzmann ; J.-P. Fryns ; T. Haaf ; A.B. Krupkin ; M.M. Miller ; L. De Moerlooze ; J. Williamson ; F. Liners ; M. Parmentier ; V. Buckle ; F. Pelliccia ; A. Rocchi ; C.P. Austin ; P. B. Bennett ; R. Swanson ; A. Dalski ; H. Engel ; M.-G. Mattei ; R. Hawken ; E. Schwinger ; Ch. Zühlke ; K. Masuda ; H. Shima ; K. Kikuchi ; Y. Matsuda ; G. Mechtersheimer ; S. Ohl ; K.K. Wilgenbus ; T. Lehnert ; F. Willeke ; P. Lichter ; S. Boukouvala ; P. Deloukas ; L. French ; T. Meitinger ; N.K. Moschonas ; K. Regemann ; T.E. Whitmore ; C.E. Lofton-Day ; L. Chen ; T.J. Quinton ; J.B. Vincent ; S.W. Scherer ; S. Doerr ; I. Hansmann ; Y. LiuCytogenetic and genome research, 2000, Vol.90 (1-2), p.154-168 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |