Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

David T. Miller Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John, A Crolla; E Eichler; Charles J Epstein; W. Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert H Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter

Cambridge 2010

Item não circula. Consulte sua biblioteca.(Acessar)

Consensus Statement chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

David T. Miller Margaret P Adam; Swaroop Aradhya; Leslie G Biesecker; Arthur R Brothman; Nigel P Carter; Deanna M Church; John, A Crolla; E Eichler; Charles J Epstein; W. Andrew Faucett; Lars Feuk; Jan M Friedman; Ada Hamosh; Laird Jackson; Erin B Kaminsky; Klaas Kok; Ian D Krantz; Robert H Kuhn; Charles Lee; James M Ostell; Carla Rosenberg; Stephen W Scherer; Nancy B Spinner; Dimitri J Stavropoulos; James H Tepperberg; Erik C Thorland; Joris R Vermeesch; Darrel J Waggoner; Michael S Watson; Christa Lese Martin; David H Ledbetter

Cambridge 2010

Item não circula. Consulte sua biblioteca.(Acessar)

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

Joshi, Ricky S. ; Garg, Paras ; Zaitlen, Noah ; Lappalainen, Tuuli ; Watson, Corey T. ; Azam, Nidha ; Ho, Daniel ; Li, Xin ; Antonarakis, Stylianos E. ; Brunner, Han G. ; Buiting, Karin ; Cheung, Sau Wai ; Coffee, Bradford ; Eggermann, Thomas ; Francis, David ; Geraedts, Joep P. ; Gimelli, Giorgio ; Jacobson, Samuel G. ; Le Caignec, Cedric ; de Leeuw, Nicole ; Liehr, Thomas ; Mackay, Deborah J. ; Montgomery, Stephen B. ; Pagnamenta, Alistair T. ; Papenhausen, Peter ; Robinson, David O. ; Ruivenkamp, Claudia ; Schwartz, Charles ; Steiner, Bernhard ; Stevenson, David A. ; Surti, Urvashi ; Wassink, Thomas ; Sharp, Andrew J.

United States: Elsevier Inc

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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Hjeij, Rim ; Onoufriadis, Alexandros ; Watson, Christopher M. ; Slagle, Christopher E. ; Klena, Nikolai T. ; Dougherty, Gerard W. ; Kurkowiak, Małgorzata ; Loges, Niki T. ; Diggle, Christine P. ; Morante, Nicholas F.C. ; Gabriel, George C. ; Lemke, Kristi L. ; Li, You ; Pennekamp, Petra ; Menchen, Tabea ; Konert, Franziska ; Marthin, June Kehlet ; Mans, Dorus A. ; Letteboer, Stef J.F. ; Werner, Claudius ; Burgoyne, Thomas ; Westermann, Cordula ; Rutman, Andrew ; Carr, Ian M. ; O’Callaghan, Christopher ; Moya, Eduardo ; Chung, Eddie M.K. ; Sheridan, Eamonn ; Nielsen, Kim G. ; Roepman, Ronald ; Bartscherer, Kerstin ; Burdine, Rebecca D. ; Lo, Cecilia W. ; Omran, Heymut ; Mitchison, Hannah M.

United States: Elsevier Inc

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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Rafehi, Haloom ; Szmulewicz, David J. ; Bennett, Mark F. ; Sobreira, Nara L.M. ; Pope, Kate ; Smith, Katherine R. ; Gillies, Greta ; Diakumis, Peter ; Dolzhenko, Egor ; Eberle, Michael A. ; Barcina, María García ; Breen, David P. ; Chancellor, Andrew M. ; Cremer, Phillip D. ; Delatycki, Martin B. ; Fogel, Brent L. ; Hackett, Anna ; Halmagyi, G. Michael ; Kapetanovic, Solange ; Lang, Anthony ; Mossman, Stuart ; Mu, Weiyi ; Patrikios, Peter ; Perlman, Susan L. ; Rosemergy, Ian ; Storey, Elsdon ; Watson, Shaun R.D. ; Wilson, Michael A. ; Zee, David S. ; Valle, David ; Amor, David J. ; Bahlo, Melanie ; Lockhart, Paul J.

United States: Elsevier Inc

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Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa

Cruciani, Fulvio ; La Fratta, Roberta ; Santolamazza, Piero ; Sellitto, Daniele ; Pascone, Roberto ; Moral, Pedro ; Watson, Elizabeth ; Guida, Valentina ; Colomb, Eliane Beraud ; Zaharova, Boriana ; Lavinha, João ; Vona, Giuseppe ; Aman, Rashid ; Calì, Francesco ; Akar, Nejat ; Richards, Martin ; Torroni, Antonio ; Novelletto, Andrea ; Scozzari, Rosaria

Chicago, IL: Elsevier Inc

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Highly Significant Linkage to the SLI1 Locus in an Expanded Sample of Individuals Affected by Specific Language Impairment

Chicago, IL: Elsevier Inc

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