Výsledky vyhledávání - Loïc Quevarec
- Zobrazuji výsledky 1 - 3 z 3
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1
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation Autor Alexandre Vivanti, Augustin Ozanne, Cynthia Grondin, Guillaume Saliou, Loïc Quevarec, Hélène Maurey, Patrick Aubourg, Alexandra Benachi, Marta Gut, Marta Gut, Jéléna Martinovic, Marie Victoire Sénat, Marcel Tawk, Judith Melki
Vydáno 2018Artigo -
2
Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis Autor Jérôme Maluenda, Constance Manso, Loïc Quevarec, Alexandre Vivanti, Florent Marguet, Marie Gonzalès, Fabien Guimiot, Florence Petit, Annick Toutain, Sandra Whalen, R Grigorescu, Anne Dieux Coeslier, Marta Gut, Marta Gut, Annie Laquerrière, Jérôme Devaux, Judith Melki
Vydáno 2016Artigo -
3
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita Autor Annie Laquerrière, Dana Jaber, Emanuela Abiusi, Jérôme Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loïc Quevarec, Flora Nolent, Valérie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloès, Bettina Bessières, Laurence Lœuillet, Tania Attié‐Bitach, Jéléna Martinovic, Sophie Blesson, Florence Petit, Claire Bénéteau, Sandra Whalen, Florent Marguet, Jérôme Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre‐Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne‐Lise Delezoide, Alice Goldenberg, Marie‐Line Jacquemont, Laëtitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Münnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, P. Landrieu, Pascaline Létard, Fanny Pelluard, Laurence Perrin, Marie‐Hélène Saint‐Frison, Haluk Topaloğlu, Laetitia Trestard, Catherine Vincent‐Delorme, Helge Amthor, Christine Barnérias, Alexandra Benachi, Éric Bieth, Elise Boucher, Valérie Cormier‐Daire, Andrée Delahaye‐Duriez, Isabelle Desguerre, B. Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin–Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quēlin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Hélène Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet‐Bianco, Michèle Granier, R Grigorescu, Julien Saada, Marie Gonzalès, Anne Guiochon‐Mantel, Jean‐Louis Bessereau, Marcel Tawk, Marta Gut, Cyril Gitiaux, Judith Melki
Vydáno 2021Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Arthrogryposis
Exome sequencing
Mutation
Phenotype
Anatomy
Arthrogryposis multiplex congenita
Bioinformatics
Candidate gene
Cell biology
Central nervous system
DNA sequencing
Disease gene identification
Exome
Function (biology)
Genetic heterogeneity
Loss function
Medicine
Myelin
Neuroscience
Node of Ranvier
Sanger sequencing
Surgery
Vein