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1 Ergebnisse
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An Integrated Clinical-Biological Approach to Identify Inte..:
Juntas Morales, Raul
;
Perrin, Aurélien
;
Solé, Guilhem
...
info:eu-repo/semantics/altIdentifier/doi/10.3390/genes12081199. , 2021
Link:
https://hal.science/hal-03314914
RT Journal T1
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families
UL https://suche.suub.uni-bremen.de/peid=base-ftunigrenoble:oai:HAL:hal-03314914v2&Exemplar=1&LAN=DE A1 Juntas Morales, Raul A1 Perrin, Aurélien A1 Solé, Guilhem A1 Lacourt, Delphine A1 Pegeot, Henri A1 Walther-Louvier, Ulrike A1 Cintas, Pascal A1 Cances, Claude A1 Espil, Caroline A1 Theze, Corinne A1 Zenagui, Reda A1 Yauy, Kevin A1 Cosset, Elodie A1 Renard, Dimitri A1 Rigau, Valerie A1 Maues de Paula, Andre A1 Uro-Coste, Emmanuelle A1 Arne-Bes, Marie-Christine A1 Martin Négrier, Marie-Laure A1 Leboucq, Nicolas A1 Acket, Blandine A1 Malfatti, Edoardo A1 Biancalana, Valérie A1 Metay, Corinne A1 Richard, Pascale A1 Rendu, John A1 Rivier, Francois A1 Koenig, Michel A1 Cossée, Mireille PB HAL CCSD; MDPI YR 2021 K1 Inter-individual variability K1 Deep phenotyping K1 Next generation sequencing K1 Myopathies K1 Atypical phenotype-genotype associations K1 MESH: Adult K1 MESH: Child K1 MESH: Cohort Studies K1 MESH: Female K1 MESH: Genotype K1 MESH: Hight-Throughput Nucleotide Sequencing K1 MESH: Humans K1 MESH: Male K1 MESH: Muscular Diseases K1 MESH: Phenotype K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics K1 [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE] K1 [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology JF info:eu-repo/semantics/altIdentifier/doi/10.3390/genes12081199 LK http://dx.doi.org/https://hal.science/hal-03314914 DO https://hal.science/hal-03314914 SF ELIB - SuUB Bremen
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