Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genesSteven B. Bleyl Janice L. B Byrne; Sarah T South; David C Dries; David A Stevenson; Alan F Rope; Angela M Vianna-Morgante; Gary C Schoenwolf; Jane D Kivlin; Arthur Brothman; John C CareyAmerican Journal of Medical Genetics. Part A v. 143A, n. 23, p. 2785-2795, 2007Hoboken 2007Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genesSteven B. Bleyl Janice L. B Byrne; Sarah T South; David C Dries; David A Stevenson; Alan F Rope; Angela Maria Vianna-Morgante; Gary C Schoenwolf; Jane D Kivlin; Arthur Brothman; John C CareyAmerican Journal of Medical Genetics. Part A v. 143A, n. 23, p. 2785-2795, 2007Hoboken 2007Item não circula. Consulte sua biblioteca.(Acessar) |
3 |
Material Type: Artigo
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Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysisBattaglia, A. ; Novelli, A. ; Ceccarini, C. ; Carey, J.C.American journal of medical genetics. Part A, 2006-01, Vol.140A (2), p.144-150 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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The FG syndrome: Report of a large Italian seriesBattaglia, A. ; Chines, C. ; Carey, J.C.American journal of medical genetics. Part A, 2006-10, Vol.140A (19), p.2075-2079 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndromeBattaglia, A. ; Novelli, A. ; Ceccarini, C. ; Bernardini, L. ; Carey, J.C.American journal of medical genetics. Part A, 2007-01, Vol.143A (2), p.184-188 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Contribution of malformations and genetic disorders to mortality in a children's hospitalStevenson, David A. ; Carey, John C.American journal of medical genetics, 2004-05, Vol.126A (4), p.393-397 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
7 |
Material Type: Artigo
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Karyotype/phenotype correlations in duplication 4q: Evidence for a critical region within 4q27-28 for preaxial defectsBattaglia, A. ; Chen, Z. ; Brothman, A.R. ; Morelli, S. ; Palumbos, J.C. ; Carey, J.C. ; Hudgins, L. ; Disteche, C.American journal of medical genetics. Part A, 2005-04, Vol.134A (3), p.334-337 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
8 |
Material Type: Artigo
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Toriello-Carey syndrome: Delineation and reviewToriello, Helga V. ; Carey, John C. ; Addor, Marie-Claude ; Allen, William ; Burke, Leah ; Chun, Nicole ; Dobyns, William ; Elias, Ellen ; Gallagher, Renata ; Hordijk, Roel ; Hoyme, Gene ; Irons, Mira ; Jewett, Tamison ; LeMerrer, Martine ; Lubinsky, Mark ; Martin, Rick ; McDonald-McGinn, Donna ; Neumann, Luitgard ; Newman, William ; Pauli, Richard ; Seaver, Laurie ; Tsai, Anna ; Wargowsky, David ; Williams, Marc ; Zackai, ElaineAmerican journal of medical genetics, 2003-11, Vol.123A (1), p.84-90 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
9 |
Material Type: Artigo
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Narrative medicine: A call to pensNowaczyk, Małgorzata J.M. ; Carey, John C.American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2117-2118 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
10 |
Material Type: Artigo
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Introductory comments special section: Trisomy 18Carey, John C.American journal of medical genetics. Part A, 2006-05, Vol.140A (9), p.935-936 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |