Výsledky vyhledávání - Mathilde Doyard
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Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta Autor Johanne Dubail, Perrine Brunelle, Geneviève Baujat, Céline Huber, Mathilde Doyard, Caroline Michot, Pascale Chavassieux, Abdeslam Khairouni, Vicken Topouchian, Sophie Monnot, Eugénie Koumakis, Valérie Cormier‐Daire
Vydáno 2020Artigo -
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Mutations in<i>SNRPB</i>, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome Autor Séverine Bacrot, Mathilde Doyard, Céline Huber, Olivier Alibeu, Niklas Feldhahn, Daphné Lehalle, Didier Lacombe, Sandrine Marlin, Patrick Nitschké, Florence Petit, Marie‐Paule Vazquez, Arnold Münnich, Valérie Cormier‐Daire
Vydáno 2014Artigo
Vyhledávací nástroje:
Související témata
Biology
Endocrinology
Exome sequencing
Gene
Genetics
Internal medicine
Medicine
Mutation
Biochemistry
Bone marrow
Bone remodeling
Chemistry
Compound heterozygosity
Dentinogenesis imperfecta
Exome
Exon
Hemochromatosis
Hereditary hemochromatosis
In vitro
Missense mutation
Molecular biology
Nonsense mutation
Nonsense-mediated decay
Osteoblast
Osteochondrodysplasia
Osteogenesis imperfecta
Osteoporosis
Pathology
RNA
RNA splicing