Ngā hua rapu kaituhi :: APM

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The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome) mā Jean‐Claude Kaplan, Dalil Hamroun

I whakaputaina 2013

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Artigo

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2

The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome) mā Jean‐Claude Kaplan, Dalil Hamroun

I whakaputaina 2014

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Artigo

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3

The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome) mā Gisèle Bonne, François Rivier, Dalil Hamroun

I whakaputaina 2017

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Artigo

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4

The 2020 version of the gene table of neuromuscular disorders (nuclear genome) mā Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun

I whakaputaina 2019

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Artigo

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The 2021 version of the gene table of neuromuscular disorders (nuclear genome) mā Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun

I whakaputaina 2020

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Artigo

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6

The 2022 version of the gene table of neuromuscular disorders (nuclear genome) mā Enzo Cohen, Gisèle Bonne, François Rivier, Dalil Hamroun

I whakaputaina 2021

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Artigo

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7

The 2023 version of the gene table of neuromuscular disorders (nuclear genome) mā Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun

I whakaputaina 2022

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Artigo

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The 2024 version of the gene table of neuromuscular disorders (nuclear genome) mā Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun

I whakaputaina 2023

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Artigo

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9

UMD (Universal Mutation Database): 2005 update mā Christophe Béroud, Dalil Hamroun, Gwenaëlle Collod‐Béroud, Cathérine Boileau, Thierry Soussi, Mireille Claustres

I whakaputaina 2005

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Artigo

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10

Meta-analysis of the p53 Mutation Database for Mutant p53 Biological Activity Reveals a Methodologic Bias in Mutation Detection mā Thierry Soussi, Bernard Asselain, Dalil Hamroun, Shunsuke Kato, Chikashi Ishioka, Mireille Claustres, Christophe Béroud

I whakaputaina 2006

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Revisão

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11

Human Splicing Finder: an online bioinformatics tool to predict splicing signals mā François-Olivier Desmet, Dalil Hamroun, Marine Lalande, Gwenaëlle Collod‐Béroud, Mireille Claustres, Christophe Béroud

I whakaputaina 2009

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Artigo

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12

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:<i>FBN1</i>,<i>FBN2</i>,<i>TGFBR1</i>, and<i>TGFBR2</i> mā Melissa Yana Frédéric, Marine Lalande, Cathérine Boileau, Dalil Hamroun, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod‐Béroud

I whakaputaina 2009

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Artigo

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13

Associations between adverse childhood experiences and clinical characteristics of eating disorders mā Sébastien Guillaume, Isabelle Jaussent, Laurent Maı̈moun, A. Ryst, Maude Sénèque, Laura Villain, Dalil Hamroun, Patrick Lefèbvre, Éric Renard, Ph. Courtet

I whakaputaina 2016

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Artigo

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14

Dissection in Marfan syndrome: the importance of the descending aorta mā Léa Mimoun, Delphine Détaint, Dalil Hamroun, Florence Arnoult, G Delorme, Mathieu Gautier, Olivier Milleron, Catherine Meuleman, François Raoux, Cathérine Boileau, Alec Vahanian, Guillaume Jondeau

I whakaputaina 2010

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Artigo

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15

The<i>FBN2</i>gene: new mutations, locus-specific database (Universal Mutation Database<i>FBN2</i>), and genotype-phenotype correlations mā Melissa Yana Frédéric, Christine Monino, Christoph Marschall, Dalil Hamroun, Laurence Faivre, Guillaume Jondeau, Hanns-Georg Klein, Luitgard M. Neumann, Élodie Gautier, Christine Binquet, Cheryl L. Maslen, Maurice Godfrey, Prateek Gupta, Dianna M. Milewicz, Cathérine Boileau, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod‐Béroud

I whakaputaina 2008

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Artigo

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The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients mā Jérôme Stirnemann, Marie Vigan, Dalil Hamroun, Djazia Heraoui, Linda Rossi‐Semerano, Marc Berger, Christian Rosé, Fabrice Camou, J. Serratrice, B. Grosbois, P. Kaminsky, Alain Robert, Catherine Caillaud, R. Froissart, Thierry Levade, A. Masseau, Cyril Mignot, Frédéric Sedel, Dries Dobbelaere, Marie T. Vanier, Vassili Valayanopoulos, Olivier Fain, B. Fantin, Thierry de Villemeur, France Mentré, Nadia Belmatoug

I whakaputaina 2012

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Artigo

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Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase mā Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, Laurence Michel‐Calemard, Marie‐Pierre Moizard, Rafaëlle Bernard, Mireille Cossée, Pierre Boisseau, Martine Blayau, Isabelle Creveaux, Anne Guiochon‐Mantel, Bérengère de Martinville, Christophe Philippe, Nicole Monnier, Éric Bieth, Philippe Khau Van Kien, François-Olivier Desmet, Véronique Humbertclaude, Jean‐Claude Kaplan, Jamel Chelly, Mireille Claustres

I whakaputaina 2009

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Artigo

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18

The new Ghent criteria for Marfan syndrome: what do they change? mā Laurence Faivre, Gwenaëlle Collod‐Béroud, Lesley C. Adès, Eloisa Arbustini, Anne H. Child, Bert Callewaert, Bart Loeys, Christine Binquet, Élodie Gautier, Karin Mayer, Mine Arslan‐Kirchner, Maurizia Grasso, Christophe Béroud, Dalil Hamroun, Claire Bonithon‐Kopp, H Plauchu, Peter N. Robinson, Julie De Backer, Paul Coucke, Uta Francke, O. Bouchot, J. E. Wolf, Chantal Stheneur, Nadine Hanna, Delphine Détaint, Anne De Paepe, Cathérine Boileau, Guillaume Jondeau

I whakaputaina 2011

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Artigo

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EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders mā António Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A.C. ‘t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Γεώργιος Παλιούρας, Carla D’Angelo, Rita Horváth, Michelangelo Mancuso, Nadine A. M. E. van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean‐Philippe Plançon, Jana Haberlová, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, E. Vroom, Mark D. Wilkinson, Hanns Lochmüller, Teresinha Evangelista

I whakaputaina 2024

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Revisão

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20

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study mā Céline Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne‐Laure Bédat‐Millet, Anthony Béhin, Rémi Bellance, Françoise Bouhour, Célia Boutte, F. Boyer, Emmanuelle Salort‐Campana, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valérie Drouin‐Garraud, Xavier Ferrer, H. Gervais-Bernard, Karima Ghorab, Pascal Laforêt, Armelle Magot, Laurent Magy, Dominique Ménard, Marie-Christine Minot, Aleksandra Nadaj‐Pakleza, Sybille Pellieux, Yann Péréon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Solé, Tanya Stojkovich, V. Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K. Gherardi, B. Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez

I whakaputaina 2016

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Artigo

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