検索結果 - Sharan Goobie
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Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7 著者: Sharan Goobie, M. Popović, Jodi Morrison, Lynda Ellis, Hedy Ginzberg, Graeme R.B. Boocock, Nadia Ehtesham, Christine Bétard, Carl G. Brewer, Nicole M. Roslin, Thomas J. Hudson, Kenneth Morgan, Takuya Fujiwara, Peter R. Durie, Johanna M. Rommens
出版事項 2001Artigo -
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VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families 著者: Cynthia V. Bourassa, Inge A. Meijer, Nancy D. Merner, Kanwal K. Grewal, Mark Stefanelli, Kathleen Hodgkinson, Elizabeth Ives, William Pryse‐Phillips, Mandar Jog, Kym M. Boycott, David A. Grimes, Sharan Goobie, Richard Leckey, Patrick A. Dion, Guy A. Rouleau
出版事項 2012Artigo -
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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression 著者: Chelsea Lowther, Marsha Speevak, Christine M. Armour, Elaine Goh, Gail E. Graham, Chumei Li, Susan Zeesman, Małgorzata J.M. Nowaczyk, Lee‐Anne Schultz, Antonella Morra, Rob Nicolson, Peter Bikangaga, Dawa Samdup, Mostafa Zaazou, Kerry Boyd, Jack H. Jung, Victoria Mok Siu, Manjulata Rajguru, Sharan Goobie, Mark A. Tarnopolsky, Chitra Prasad, Paul T. Dick, Asmaa S. Hussain, Margreet Walinga, Renske G. Reijenga, Matthew J. Gazzellone, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Dimitri J. Stavropoulos, M. Elizabeth McCready, Anne S. Bassett
出版事項 2016Artigo -
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Family‐centred care interventions for children with chronic conditions: A scoping review 著者: Andrea Chow, Ammar Saad, Zobaida Al‐Baldawi, Ryan Iverson, Becky Skidmore, Isabel Jordán, Nicole Pallone, Maureen Smith, Pranesh Chakraborty, Jamie Brehaut, Eyal Cohen, Sarah Dyack, Jane Gillis, Sharan Goobie, Cheryl R. Greenberg, Robin Z. Hayeems, Brian Hutton, Michal Inbar‐Feigenberg, Shailly Jain‐Ghai, Sara D. Khangura, Jennifer MacKenzie, John J. Mitchell, Zeinab Moazin, Stuart G. Nicholls, Amy Pender, Chitra Prasad, Andreas Schulze, Komudi Siriwardena, Rebecca N. Sparkes, Kathy N. Speechley, Sylvia Stöckler, Monica Taljaard, Mari Teitelbaum, Yannis Trakadis, Clara van Karnebeek, Jagdeep S. Walia, Kumanan Wilson, Beth K. Potter
出版事項 2024Revisão
関連主題
Biology
Gene
Genetics
Medicine
Phenotype
Exon
Molecular biology
Mutation
Allele
Ataxia
Cerebral palsy
Chromosome
Congenital muscular dystrophy
Copy-number variation
Cystic fibrosis
Exocrine pancreatic insufficiency
Gene isoform
Gene mapping
Genetic linkage
Genome
Genotype
Haplotype
Hereditary spastic paraplegia
Internal medicine
Locus (genetics)
Lod score
Missense mutation
Muscular dystrophy
Myopathy
Neuroscience