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Cover Image, Volume 173A, Number 9, September 2017Kruszka, Paul ; Porras, Antonio R. ; Addissie, Yonit A. ; Moresco, Angélica ; Medrano, Sofia ; Mok, Gary T. K. ; Leung, Gordon K. C. ; Tekendo‐Ngongang, Cedrik ; Uwineza, Annette ; Thong, Meow‐Keong ; Muthukumarasamy, Premala ; Honey, Engela ; Ekure, Ekanem N. ; Sokunbi, Ogochukwu J. ; Kalu, Nnenna ; Jones, Kelly L. ; Kaplan, Julie D. ; Abdul‐Rahman, Omar A. ; Vincent, Lisa M. ; Love, Amber ; Belhassan, Khadija ; Ouldim, Karim ; El Bouchikhi, Ihssane ; Shukla, Anju ; Girisha, Katta M. ; Patil, Siddaramappa J. ; Sirisena, Nirmala D. ; Dissanayake, Vajira H. W. ; Paththinige, C. Sampath ; Mishra, Rupesh ; Klein‐Zighelboim, Eva ; Gallardo Jugo, Bertha E. ; Chávez Pastor, Miguel ; Abarca‐Barriga, Hugo H. ; Skinner, Steven A. ; Prijoles, Eloise J. ; Badoe, Eben ; Gill, Ashleigh D. ; Shotelersuk, Vorasuk ; Smpokou, Patroula ; Kisling, Monisha S. ; Ferreira, Carlos R. ; Mutesa, Leon ; Megarbane, Andre ; Kline, Antonie D. ; Kimball, Amy ; Okello, Emmy ; Lwabi, Peter ; Aliku, Twalib ; Tenywa, Emmanuel ; Boonchooduang, Nonglak ; Tanpaiboon, Pranoot ; Richieri‐Costa, Antonio ; Wonkam, Ambroise ; Chung, Brian H. Y. ; Stevenson, Roger E. ; Summar, Marshall ; Mandal, Kausik ; Phadke, Shubha R. ; Obregon, María G. ; Linguraru, Marius G. ; Muenke, MaximilianAmerican journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.i-i [Periódico revisado por pares]United StatesTexto completo disponível |
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Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndromeChapleau, Christopher A. ; Lane, Jane ; Kirwin, Susan M. ; Schanen, Carolyn ; Vinette, Kathy M.B. ; Stubbolo, Danielle ; MacLeod, Patrick ; Percy, Alan K.American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1638-1646 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Clinical utility of the X-chromosome arrayZarate, Yuri A. ; Dwivedi, Alka ; Bartel, Frank O. ; Bellomo, M. Allison ; Cathey, Sara S. ; Champaigne, Neena L. ; Clarkson, L. Kate ; DuPont, Barbara R. ; Everman, David B. ; Geer, Joseph S. ; Gordon, Barbara C. ; Lichty, Angie W. ; Lyons, Michael J. ; Rogers, R. Curtis ; Saul, Robert A. ; Schroer, Richard J. ; Skinner, Steven A. ; Stevenson, Roger E.American journal of medical genetics. Part A, 2013-01, Vol.161A (1), p.120-130 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |