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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Novel synonymous and missense variants in FGFR1 causing Hartsfield syndromeCourage, Carolina ; Jackson, Christopher B. ; Owczarek‐Lipska, Marta ; Jamsheer, Aleksander ; Sowińska‐Seidler, Anna ; Piotrowicz, Małgorzata ; Jakubowski, Lucjusz ; Dallèves, Fanny ; Riesch, Erik ; Neidhardt, John ; Lemke, Johannes R.American journal of medical genetics. Part A, 2019-12, Vol.179 (12), p.2447-2453 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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2 |
Material Type: Artigo
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Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like featuresIzumi, Kosuke ; Housam, Ryan ; Kapadia, Chirag ; Stallings, Virginia A. ; Medne, Livija ; Shaikh, Tamim H. ; Kublaoui, Bassil M. ; Zackai, Elaine H. ; Grimberg, AddaAmerican journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.3137-3143 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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3 |
Material Type: Artigo
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Clues to an early diagnosis of Kallmann syndromeKaplan, Julie D. ; Bernstein, Jonathan A. ; Kwan, Andrea ; Hudgins, LouanneAmerican journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2796-2801 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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4 |
Material Type: Artigo
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Bosma arhinia microphthalmia syndromeGraham, John M. ; Lee, JohnAmerican journal of medical genetics. Part A, 2006-01, Vol.140A (2), p.189-193 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |