תוצאות חיפוש - Jean‐Claude KAPLAN
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Illegitimate transcription: Its use in the study of inherited disease מאת Jean-Claude Kaplan, Axel Kahn, Jamel Chelly
יצא לאור 1992Revisão -
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Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database מאת Aurélie Nicolas, Céline Lucchetti-Miganeh, Rabah Ben Yaou, Jean‐Claude Kaplan, Jamel Chelly, France Leturcq, Frédérique Barloy-Hubler, Élisabeth Le Rumeur
יצא לאור 2012Artigo -
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Revised spectrum of mutations in sarcoglycanopathies מאת Madiha Trabelsi, Niloufar Kavian, Fatma Daoud, Virginie Commere, Nathalie Deburgrave, Caroline Beugnet, S. Llense, Jean Claude Barbot, Aurélie Vasson, Jean Claude Kaplan, France Leturcq, Jamel Chelly
יצא לאור 2008Artigo -
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Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene מאת Nathalie Deburgrave, Fatma Daoud, S. Llense, Jean Claude Barbot, Dominique Récan, Cécile Peccate, Arthur H.M. Burghes, Christophe Béroud, Luis Garcı́a, Jean‐Claude Kaplan, Jamel Chelly, France Leturcq
יצא לאור 2006Artigo -
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Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase מאת Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, Laurence Michel‐Calemard, Marie‐Pierre Moizard, Rafaëlle Bernard, Mireille Cossée, Pierre Boisseau, Martine Blayau, Isabelle Creveaux, Anne Guiochon‐Mantel, Bérengère de Martinville, Christophe Philippe, Nicole Monnier, Éric Bieth, Philippe Khau Van Kien, François-Olivier Desmet, Véronique Humbertclaude, Jean‐Claude Kaplan, Jamel Chelly, Mireille Claustres
יצא לאור 2009Artigo
כלי חיפוש:
נושאים קשורים
Biology
Gene
Genetics
Computational biology
Exon
Molecular biology
Mutation
Bioinformatics
Duchenne muscular dystrophy
Dystrophin
Frameshift mutation
Internal medicine
Medicine
Muscular dystrophy
Phenotype
Alternative splicing
Biochemistry
Chemistry
Computer science
Disease
Exon skipping
Genotype
Polymerase chain reaction
Adenosine
Cell biology
Collagen VI
Complementary DNA
Data mining
Database
Diphosphoglycerate