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1 Ergebnisse
1
A recurrent RYR1 mutation associated with early-onset hypot..:
Biancalana, Valérie
;
Rendu, John
;
Chaussenot, Annabelle
...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s40478-021-01254-y. , 2021
Link:
https://hal.science/hal-03613310
RT Journal T1
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
UL https://suche.suub.uni-bremen.de/peid=base-ftccsdartic:oai:HAL:hal-03613310v1&Exemplar=1&LAN=DE A1 Biancalana, Valérie A1 Rendu, John A1 Chaussenot, Annabelle A1 Mecili, Helen A1 Bieth, Eric A1 Fradin, Mélanie A1 Mercier, Sandra A1 Michaud, Maud A1 Nougues, Marie-Christine A1 Pasquier, Laurent A1 Sacconi, Sabrina A1 Romero, Norma A1 Marcorelles, Pascale A1 Authier, François Jérôme A1 Gelot Bernabe, Antoinette A1 Uro-Coste, Emmanuelle A1 Cances, Claude A1 Isidor, Bertrand A1 Magot, Armelle A1 Minot-Myhie, Marie-Christine A1 Péréon, Yann A1 Perrier-Boeswillwald, Julie A1 Bretaudeau, Gilles A1 Dondaine, Nicolas A1 Bouzenard, Alison A1 Pizzimenti, Mégane A1 Eymard, Bruno A1 Ferreiro, Ana A1 Laporte, Jocelyn A1 Fauré, Julien A1 Böhm, Johann PB HAL CCSD; BioMed Central part of Springer Science YR 2021 K1 Calcium K1 Congenital myopathy K1 Excitation–contraction coupling K1 Muscle weakness K1 Neuromuscular disorder K1 Triad K1 [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry K1 Molecular Biology/Molecular biology K1 [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry K1 Molecular Biology/Genomics [q-bio.GN] K1 [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC] K1 [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics K1 [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics K1 [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology JF info:eu-repo/semantics/altIdentifier/doi/10.1186/s40478-021-01254-y LK http://dx.doi.org/https://hal.science/hal-03613310 DO https://hal.science/hal-03613310 SF ELIB - SuUB Bremen
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