Torthaí cuardaigh - Jean‐Claude KAPLAN
- 1 - 10 toradh as 10 á dtaispeáint
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1
The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome) de réir Jean‐Claude Kaplan, Dalil Hamroun
Foilsithe / Cruthaithe 2013Artigo -
2
The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome) de réir Jean‐Claude Kaplan, Dalil Hamroun
Foilsithe / Cruthaithe 2014Artigo -
3
Illegitimate transcription: Its use in the study of inherited disease de réir Jean-Claude Kaplan, Axel Kahn, Jamel Chelly
Foilsithe / Cruthaithe 1992Revisão -
4
2,3-Diphosphoglycerate Content and Oxygen Affinity as a Function of Red Cell Age in Normal Individuals de réir Stavros Haidas, Dominique Labie, Jean‐Claude Kaplan
Foilsithe / Cruthaithe 1971Artigo -
5
Quantitative estimation of minor mRNAs by cDNA‐polymerase chain reaction de réir Jamel Chelly, Didier Montarras, Christian Pinset, Yoheved Berwald‐Netter, Jean‐Claude KAPLAN, Axel Kahn
Foilsithe / Cruthaithe 1990Artigo -
6
Rescue of Dystrophic Muscle Through U7 snRNA-Mediated Exon Skipping de réir Aurélie Goyenvalle, Adeline Vulin, Françoise Fougerousse, France Leturcq, Jean‐Claude Kaplan, Luis Garcı́a, Olivier Danos
Foilsithe / Cruthaithe 2004Artigo -
7
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database de réir Aurélie Nicolas, Céline Lucchetti-Miganeh, Rabah Ben Yaou, Jean‐Claude Kaplan, Jamel Chelly, France Leturcq, Frédérique Barloy-Hubler, Élisabeth Le Rumeur
Foilsithe / Cruthaithe 2012Artigo -
8
Revised spectrum of mutations in sarcoglycanopathies de réir 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
Foilsithe / Cruthaithe 2008Artigo -
9
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 de réir 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
Foilsithe / Cruthaithe 2006Artigo -
10
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase de réir 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
Foilsithe / Cruthaithe 2009Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
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