Search Results - Arnold Munnich
Arnold Munnich
Arnold Munnich (born 9 October 1949, in Paris), is a French paediatrician-geneticist. He is the creator and head of the department of medical genetics at the Necker-Enfants malades hospital in Paris. He was an advisor to the President of the Republic from 2007 to 2012 and a member of the Scientific Council of the AMMi Association. Provided by Wikipedia- Showing 1 - 6 results of 6
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Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells by Xavier Gérard, Isabelle Perrault, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet
Published 2015Call Number: Loading…Connect to this object online.
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The Computerized Adaptable Test Battery (BMT-i) for Rapid Assessment of Children's Academic Skills and Cognitive Functions: A Validation Study by Catherine Billard, Eric Thiébaut, Sahawanatou Gassama, Sahawanatou Gassama, Monique Touzin, Monique Touzin, Jean-Christophe Thalabard, Anne Mirassou, Arnold Munnich
Published 2021Call Number: Loading…Connect to this object online.
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External Validation of BMT-i Computerized Test Battery for Diagnosis of Learning Disabilities by Catherine Billard, Camille Jung, Arnold Munnich, Sahawanatou Gassama, Sahawanatou Gassama, Monique Touzin, Monique Touzin, Anne Mirassou, Thiébaut-Noël Willig, Thiébaut-Noël Willig
Published 2021Call Number: Loading…Connect to this object online.
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AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation by Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlèene Rio, Arnold Munnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean-Michel Rozet
Published 2012Call Number: Loading…Connect to this object online.
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A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia by Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Valérie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell, Vincent Cantagrel
Published 2023Call Number: Loading…Connect to this object online.
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An Evaluation of Three Ways of Communicating Carrier Status Results to the Parents of Children in a Neonatal Sickle Cell Screening Programme by Christelle Rémus, Christelle Rémus, Christelle Rémus, Aurélie Stanislas, Aurélie Stanislas, Naïm Bouazza, Valérie Gauthereau, Michel Polak, Stéphane Blanche, Assa Niakaté, Eliane Gluckman, Jean-Marc Tréluyer, Arnold Munnich, Robert Girot, Robert Girot, Robert Girot, Marina Cavazzana, Marina Cavazzana
Published 2020Call Number: Loading…Connect to this object online.
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