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Papers共 34 篇Author StatisticsCo-AuthorSimilar Experts

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Iqsec2-Related Encephalopathy In Males And Females: A Comparative Study Including 37 Novel Patients (Vol 21, Pg 837, 2019)
Cyril Mignot,Aoife C. Mcmahon,Claire Bar,Philippe M. Campeau,Claire Davidson,Julien Buratti,Caroline Nava,Marie-Line Jacquemont,Marilyn Tallot,Mathieu Milh,Patrick Edery,Pauline Marzin,Giulia Barcia,Christine Barnerias,Claude Besmond,Thierry Bienvenu,Ange-Line Bruel,Ledia Brunga,Berten Ceulemans,Christine Coubes,Ana G. Cristancho,Fiona Cunningham,Marie-Bertille Dehouck,Elizabeth J. Donner,Benedicte Duban-Bedu,Christele Dubourg,Elena Gardella,Julie Gauthier,David Genevieve,Stephanie Gobin-Limballe,Ethan M. Goldberg,Eveline Hagebeuk,Fadi F. Hamdan,Miroslava Hancarova,Laurence Hubert,Christine Ioos,Shoji Ichikawa,Sandra Janssens,Hubert Journel,Anna Kaminska,Boris Keren,Marije Koopmans,Caroline Lacoste,Petra Lassuthova,Damien Lederer,Daphne Lehalle,Dragan Marjanovic,Julia Metreau,Jacques L. Michaud,Kathryn Miller,Berge A. Minassian,Joannella Morales,Marie-Laure Moutard,Arnold Munnich,Xilma R. Ortiz-Gonzalez,Jean-Marc Pinard,Darina Prchalova,Audrey Putoux,Chloe Quelin,Alyssa R. Rosen,Joelle Roume,Elsa Rossignol,Marleen E. H. Simon,Thomas Smol,Natasha Shur,Ivan Shelihan,Katalin Sterbova,Emilie Vyhnalkova,Catheline Vilain,Julie Soblet,Guillaume Smits,Samuel P. Yang,Jasper J. Van Der Smagt,Peter M. Van Hasselt,Marjan Van Kempen,Sarah Weckhuysen,Ingo Helbig,Laurent Villard,Delphine Heron,Bobby Koeleman,Rikke S. Moller,Gaetan Lesca,Katherine L. Helbig,Rima Nabbout,Nienke E. Verbeek,Christel Depienne
GENETICS IN MEDICINE（2019）
Cited1Views0Bibtex
1
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IQSEC2-related Encephalopathy in Males and Females: a Comparative Study Including 37 Novel Patients
Cyril Mignot,Aoife McMahon,Claire Bar, Philippe M. Campeau,Claire Davidson,Julien Buratti, Caroline Nava,Marie‐Line Jacquemont,Marilyn Tallot,Mathieu Milh,Patrick Edery,Pauline Marzin,Giulia Barcia,Christine Barnérias,Claude Besmond,Thierry Bienvenu, Ange-Line Bruel,Ledia Brunga,Berten Ceulemans,Christine Coubes, Ana G. Cristancho,Fiona Cunningham, Marie-Bertille Dehouck,Elizabeth Donner,Bénédicte Duban‐Bedu, Christèle Dubourg,Elena Gardella,Julie Gauthier,David Geneviève,Stéphanie Gobin-Limballe,Ethan Em Goldberg,Eveline Hagebeuk,Fadi F. Hamdan, Miroslava Hančárová,Laurence Hubert, Christine Ioos,Shoji Ichikawa,Sandra Janssens,Hubert Journel,Anna Kamińska,Boris Keren,Marije Koopmans,Caroline Lacoste, Petra Laššuthová,Damien Lederer,Daphné Lehalle,Dragan Marjanović,Julia Métreau,Jacques J.L. Michaud,Kathryn Miller,Berge Ba Minassian,Joannella Morales, Marie‐Laure Moutard,Arnold Münnich,Xilma R. Ortiz‐González,Jean-Marc Pinard,Darina Prchalová,Audrey Putoux,Chloé Quēlin,Alyssa Rosen, J. Roume,Elsa Rossignol, Marleen Simon,Thomas Smol, Natasha Shur, Ivan Shelihan,Katalin Štěrbová,Emílie Vyhnálková,Catheline Vilain,Julie Soblet,Guillaume Smits, Samuel P. Yang, J.J. Van Der Smagt,Peter M. van Hasselt,Marjan van Kempen,Sarah Weckhuysen,Ingo Helbig,Laurent Villard,Delphine Héron, Bobby Koeleman, Rikke S. Møller, Gaëtan Lesca, Katherine Kl Helbig,Rima Nabbout,Nienke Ne Verbeek, Christel Depienne
Genetics in medicineno. 4 (2019): 837-849
Cited0Views0Bibtex
0
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Correction: IQSEC2-related Encephalopathy in Males and Females: a Comparative Study Including 37 Novel Patients
Cyril Mignot,Aoife C McMahon,Claire Bar,Philippe M Campeau,Claire Davidson,Julien Buratti,Caroline Nava,Marie-Line Jacquemont,Marilyn Tallot,Mathieu Milh,Patrick Edery,Pauline Marzin,Giulia Barcia,Christine Barnerias,Claude Besmond,Thierry Bienvenu,Ange-Line Bruel,Ledia Brunga,Berten Ceulemans,Christine Coubes,Ana G Cristancho,Fiona Cunningham,Marie-Bertille Dehouck,Elizabeth J Donner,Bénédicte Duban-Bedu,Christèle Dubourg,Elena Gardella,Julie Gauthier,David Geneviève,Stéphanie Gobin-Limballe,Ethan M Goldberg,Eveline Hagebeuk,Fadi F Hamdan,Miroslava Hančárová,Laurence Hubert,Christine Ioos,Shoji Ichikawa,Sandra Janssens,Hubert Journel,Anna Kaminska,Boris Keren,Marije Koopmans,Caroline Lacoste,Petra Laššuthová,Damien Lederer,Daphné Lehalle,Dragan Marjanovic,Julia Métreau,Jacques L Michaud,Kathryn Miller,Berge A Minassian,Joannella Morales,Marie-Laure Moutard,Arnold Munnich,Xilma R Ortiz-Gonzalez,Jean-Marc Pinard,Darina Prchalová,Audrey Putoux,Chloé Quelin,Alyssa R Rosen,Joelle Roume,Elsa Rossignol,Marleen E H Simon,Thomas Smol,Natasha Shur,Ivan Shelihan,Katalin Štěrbová,Emílie Vyhnálková,Catheline Vilain,Julie Soblet,Guillaume Smits,Samuel P Yang,Jasper J van der Smagt,Peter M van Hasselt,Marjan van Kempen,Sarah Weckhuysen,Ingo Helbig,Laurent Villard,Delphine Héron,Bobby Koeleman,Rikke S Møller,Gaetan Lesca,Katherine L Helbig,Rima Nabbout,Nienke E Verbeek,Christel Depienne
Genetics in medicine official journal of the American College of Medical Genetics（2019）
Cited49Views0WOSBibtex
49
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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
Clothilde Esteve,Ludmila Francescatto,Perciliz L. Tan,Aurelie Bourchany,Cecile De Leusse,Evelyne Marinier,Arnaud Blanchard,Patrice Bourgeois,Celine Brochier-Armanet,Ange-Line Bruel,Arnauld Delarue,Yannis Duffourd,Emmanuelle Ecochard-Dugelay,Geraldine Hery,Frederic Huet,Philippe Gauchez,Emmanuel Gonzales, Catherine Guettier-Bouttier,Mina Komuta,Caroline Lacoste, Raphaelle Maudinas, Karin Mazodier, Yves Rimet, Jean-Baptiste Riviere, Bertrand Roquelaure, Sabine Sigaudy, Xavier Stephenne, Christel Thauvin-Robinet, Julien Thevenon, Jacques Sarles, Nicolas Levy, Catherine Badens, Olivier Goulet, Jean-Pierre Hugot, Nicholas Katsanis, Laurence Faivre, Alexandre Fabre
American journal of human genetics（2018）
Cited0Views0WOSBibtex
0
0
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Author Statistics

#Papers: 35

#Citation: 735

H-Index: 14

G-Index: 23

Sociability: 6

Diversity: 3

Activity: 2

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