Ngā hua rapu - Sharan Goobie
- E whakaatu ana i te 1 - 5 hua o te 5
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Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7 mā 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
I whakaputaina 2001Artigo -
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VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families mā 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
I whakaputaina 2012Artigo -
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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression mā 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
I whakaputaina 2016Artigo -
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Family‐centred care interventions for children with chronic conditions: A scoping review mā 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
I whakaputaina 2024Revisão
Ngā utauta rapu:
Ngā marau whai pānga
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