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Early impact of X‐ and Y‐chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2‐year‐old childrenBouw, Nienke ; Swaab, Hanna ; Tartaglia, Nicole ; Jansen, Anna C. ; Rijn, SophieAmerican journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.1943-1953 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosisWigby, Kristen ; D'Epagnier, Cheryl ; Howell, Susan ; Reicks, Amy ; Wilson, Rebecca ; Cordeiro, Lisa ; Tartaglia, NicoleAmerican journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2870-2881 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Early developmental impact of sex chromosome trisomies on attention deficit‐hyperactivity disorder symptomology in young childrenKuiper, Kimberly ; Swaab, Hanna ; Tartaglia, Nicole ; Rijn, SophieAmerican journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3664-3674 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Influences of sex chromosome aneuploidy on height, weight, and body mass index in human childhood and adolescenceHanson, Claire ; Blumenthal, Jonathan ; Clasen, Liv ; Guma, Elisa ; Raznahan, ArminAmerican journal of medical genetics. Part A, 2024-02, Vol.194 (2), p.150-159 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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A new look at XXYY syndrome: Medical and psychological featuresTartaglia, Nicole ; Davis, Shanlee ; Hench, Alison ; Nimishakavi, Sheela ; Beauregard, Renee ; Reynolds, Ann ; Fenton, Laura ; Albrecht, Lindsey ; Ross, Judith ; Visootsak, Jeannie ; Hansen, Robin ; Hagerman, RandiAmerican journal of medical genetics. Part A, 2008-06, Vol.146A (12), p.1509-1522 [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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A novel CDKL5 mutation in a 47,XXY boy with the early‐onset seizure variant of Rett syndromeSartori, Stefano ; Di Rosa, Gabriella ; Polli, Roberta ; Bettella, Elisa ; Tricomi, Giovanni ; Tortorella, Gaetano ; Murgia, AlessandraAmerican journal of medical genetics. Part A, 2009-02, Vol.149A (2), p.232-236 [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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Behavioral and psychological features in girls and women with triple‐X syndromeFreilinger, Petra ; Kliegel, David ; Hänig, Susann ; Oehl‐Jaschkowitz, Barbara ; Henn, Wolfram ; Meyer, JobstAmerican journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2284-2291 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrumFreed, Amanda S. ; Schwarz, Anisha C. ; Brei, Brianna K. ; Clowes Candadai, Sarah V. ; Thies, Jenny ; Mah, Jean K. ; Chabra, Shilpi ; Wang, Leo ; Innes, A. Micheil ; Bennett, James T.American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.827-835 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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International investigation of neurocognitive and behavioral phenotype in 47,XXY (Klinefelter syndrome): Predicting individual differencesSamango‐Sprouse, Carole ; Stapleton, Emily ; Chea, Selena ; Lawson, Patrick ; Sadeghin, Teresa ; Cappello, Chris ; de Sonneville, Leo ; van Rijn, SophieAmerican journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.877-885 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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The mystery of monozygotic twinning II: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning?Hall, Judith G.American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1822-1835 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |