Resultados da busca - Patricia McAndrew
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1
Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number por D. Williams Parsons, Patricia McAndrew, ST Iannaccone, Jerry R. Mendell, Arthur H.M. Burghes, T. Prior
Publicado em 1998Artigo -
2
Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number por Patricia McAndrew, D. Williams Parsons, Louise R. Simard, Camille Rochette, Peter N. Ray, Jerry R. Mendell, Thomas W. Prior, Arthur H.M. Burghes
Publicado em 1997Artigo -
3
Mutation detection in the ABCC6 gene and genotype phenotype analysis in a large international case series affected by pseudoxanthoma elasticum por Ellen G Pfendner, O. Vanakker, Sharon F. Terry, Sophia Vourthis, Patricia McAndrew, Makenzi McClain, S. Fratta, Anna-Susan Marais, S. Hariri, Paul Coucke, Michèle Ramsay, Denis Viljoen, Patrick F. Terry, Anne De Paepe, J. Uitto, L. G Bercovitch
Publicado em 2007Artigo -
4
Myoblast Transfer in the Treatment of Duchenne's Muscular Dystrophy por Jerry R. Mendell, John T. Kissel, Anthony A. Amato, Wendy King, L. Signore, Thomas W. Prior, Zarife Sahenk, Sandra Benson, Patricia McAndrew, Robert Rice, Haikady N. Nagaraja, Ralph E. Stephens, Laura E. Lantry, Glen E. Morris, Arthur H.M. Burghes
Publicado em 1995Artigo
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Assuntos relacionados
Allele
Biology
Exon
Gene
Genetics
Molecular biology
Phenotype
Combinatorics
Compound heterozygosity
Mathematics
Medicine
Mutation
SMA*
Spinal muscular atrophy
Biceps
Copy-number variation
Duchenne muscular dystrophy
Dystrophin
Frameshift mutation
Gene dosage
Gene duplication
Gene expression
Genome
Genotype
Heterozygote advantage
Internal medicine
Isometric exercise
Missense mutation
Muscular dystrophy
Myocyte