תוצאות חיפוש - Monica Isnard
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1
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation מאת Mélanie Fradin, Corinne Stoetzel, Jean Muller, M. Koob, D. Christmann, Christian Debry, M F Kohler, Monica Isnard, Didier Astruc, P Desprez, C Zorres, Elisabeth Flori, Hélène Dollfus, Bérénice Doray
יצא לאור 2010Artigo -
2
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing מאת A. Taillandier, Christelle Domingues, Clémence De Cazanove, Valérie Porquet‐Bordes, Sophie Monnot, Tina Kiffer-Moreira, Agnès Rothenbuhler, Pascal Guggenbuhl, Catherine Cormier, Geneviève Baujat, Françoise Debiais, Yline Capri, Martine Cohen‐Solal, P. Parent, Jean Chiésa, Anne Dieux, Florence Petit, J. Roume, Monica Isnard, Valérie Cormier‐Daire, Agnès Linglart, José Luís Millán, Jean‐Pierre Salles, Christine Muti, Brigitte Simon‐Bouy, Étienne Mornet
יצא לאור 2015Artigo
כלי חיפוש:
נושאים קשורים
Alkaline phosphatase
Biochemistry
Biology
Enzyme
Gene
Genetics
Hypophosphatasia
Medicine
Mutation
Pathology
Alternative medicine
Atresia
Bioinformatics
Choanal atresia
Differential diagnosis
Dwarfism
Dysplasia
Fetus
Hypoplasia
Internal medicine
Osteogenesis imperfecta
Pediatrics
Phenotype
Pregnancy
Prenatal diagnosis
Psychomotor retardation
Sanger sequencing