Defective membrane remodeling in neuromuscular diseases: insights from animal models.

by Belinda S Cowling, Anne Toussaint, Jean Muller, Jocelyn Laporte
Published 2012-01-01

Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility

by Ozlem Okutman, Julien Tarabeux, Jean Muller, Stéphane Viville
Published 2021-03-01

Caractérisation intra-annuelle de la variabilité climatique en Côte d’Ivoire

by Amani Michel Kouassi, Jean-Muller Kouao, Koffi Eugène Kouakou
Published 2022-07-01

A nitrile hydratase in the eukaryote Monosiga brevicollis.

by Konrad U Foerstner, Tobias Doerks, Jean Muller, Jeroen Raes, Peer Bork
Published 2008-01-01

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

by Elise Schaefer, Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Hélène Dollfus, Jean Muller, Jean Muller
Published 2019-01-01

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

by Laura Mauring, Louise Frances Porter, Louise Frances Porter, Valerie Pelletier, Axelle Riehm, Anne-Sophie Leuvrey, Aurélie Gouronc, Fouzia Studer, Corinne Stoetzel, Helene Dollfus, Helene Dollfus, Helene Dollfus, Jean Muller, Jean Muller
Published 2020-08-01

Identifying single copy orthologs in Metazoa.

by Christopher J Creevey, Jean Muller, Tobias Doerks, Julie D Thompson, Detlev Arendt, Peer Bork
Published 2011-12-01

Homozygous Splice Site Mutation in <i>ZP1</i> Causes Familial Oocyte Maturation Defect

by Özlem Okutman, Cem Demirel, Firat Tülek, Veronique Pfister, Umut Büyük, Jean Muller, Nicolas Charlet-Berguerand, Stéphane Viville
Published 2020-04-01

VaRank: a simple and powerful tool for ranking genetic variants

by Véronique Geoffroy, Cécile Pizot, Claire Redin, Amélie Piton, Nasim Vasli, Corinne Stoetzel, André Blavier, Jocelyn Laporte, Jean Muller
Published 2015-03-01

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

by Virginie Laugel-Haushalter, Supawich Morkmued, Supawich Morkmued, Corinne Stoetzel, Véronique Geoffroy, Jean Muller, Jean Muller, Anne Boland, Jean-François Deleuze, Kirsley Chennen, Kirsley Chennen, Waranuch Pitiphat, Hélène Dollfus, Hélène Dollfus, Karen Niederreither, Karen Niederreither, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Patimaporn Pungchanchaikul
Published 2018-09-01

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study

by Jean-Marie Ravel, Mathilde Renaud, Jean Muller, Aurélie Becker, Émeline Renard, Thomas Remen, Geneviève Lefort, Mylène Dexheimer, Philippe Jonveaux, Bruno Leheup, Céline Bonnet, Laëtitia Lambert
Published 2023-05-01

The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol

by Catherine Lejeune, Catherine Lejeune, Charley Robert-Viard, Charley Robert-Viard, Nicolas Meunier-Beillard, Nicolas Meunier-Beillard, Myriam Alice Borel, Léna Gourvès, Stéphanie Staraci, Anne-Laure Soilly, Francis Guillemin, Valerie Seror, Hamza Achit, Marion Bouctot, Marie-Laure Asensio, Anne-Sophie Briffaut, Christelle Delmas, Ange-Line Bruel, Alexia Benoit, Alban Simon, Bénédicte Gerard, Hamza Hadj Abdallah, Hamza Hadj Abdallah, Stanislas Lyonnet, Stanislas Lyonnet, Laurence Faivre, Christel Thauvin-Robinet, Sylvie Odent, Delphine Heron, Damien Sanlaville, Thierry Frebourg, Thierry Frebourg, Jean Muller, Jean Muller, Jean Muller, Yannis Duffourd, Anne Boland, Jean-François Deleuze, Hélène Espérou, Christine Binquet, Hélène Dollfus
Published 2022-04-01

WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

by Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller
Published 2023-05-01

Novel <i>TTLL5</i> Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

by Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Published 2021-06-01

CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability

by Louise Montagne, Mehdi Derhourhi, Amélie Piton, Bénédicte Toussaint, Emmanuelle Durand, Emmanuel Vaillant, Dorothée Thuillier, Stefan Gaget, Franck De Graeve, Iandry Rabearivelo, Amélie Lansiaux, Bruno Lenne, Sylvie Sukno, Rachel Desailloud, Miriam Cnop, Ramona Nicolescu, Lior Cohen, Jean-François Zagury, Mélanie Amouyal, Jacques Weill, Jean Muller, Olivier Sand, Bruno Delobel, Philippe Froguel, Amélie Bonnefond
Published 2018-07-01

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

by Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus
Published 2020-07-01

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

by Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim, Hee Young Kim, Jinhu Kim, Hyeonho Kim, Julia Wynn, Wendy K. Chung, Giuseppina Vitiello, Ioana Cutcutache, Matthew Page, Jozef Gecz, Kelly Harper, Ah-reum Han, Ho Min Kim, Marja Wessels, Allan Bayat, Alberto Fernández Jaén, Angelo Selicorni, Silvia Maitz, Arjan P. M. de Brouwer, Anneke Vulto-van Silfhout, Martin Armstrong, Joseph Symonds, Sébastien Küry, Bertrand Isidor, Benjamin Cogné, Mathilde Nizon, Claire Feger, Jean Muller, Erin Torti, Dorothy K. Grange, Marjolaine Willems, Michael C. Kruer, Jaewon Ko, Amélie Piton, Ji Won Um
Published 2022-07-01

The Data Use Ontology to streamline responsible access to human biomedical datasets

by Jonathan Lawson, Moran N. Cabili, Giselle Kerry, Tiffany Boughtwood, Adrian Thorogood, Pinar Alper, Sarion R. Bowers, Rebecca R. Boyles, Anthony J. Brookes, Matthew Brush, Tony Burdett, Hayley Clissold, Stacey Donnelly, Stephanie O.M. Dyke, Mallory A. Freeberg, Melissa A. Haendel, Chihiro Hata, Petr Holub, Francis Jeanson, Aina Jene, Minae Kawashima, Shuichi Kawashima, Melissa Konopko, Irene Kyomugisha, Haoyuan Li, Mikael Linden, Laura Lyman Rodriguez, Mizuki Morita, Nicola Mulder, Jean Muller, Satoshi Nagaie, Jamal Nasir, Soichi Ogishima, Vivian Ota Wang, Laura D. Paglione, Ravi N. Pandya, Helen Parkinson, Anthony A. Philippakis, Fabian Prasser, Jordi Rambla, Kathy Reinold, Gregory A. Rushton, Andrea Saltzman, Gary Saunders, Heidi J. Sofia, John D. Spalding, Morris A. Swertz, Ilia Tulchinsky, Esther J. van Enckevort, Susheel Varma, Craig Voisin, Natsuko Yamamoto, Chisato Yamasaki, Lyndon Zass, Jaime M. Guidry Auvil, Tommi H. Nyrönen, Mélanie Courtot
Published 2021-11-01

Notice sur la vie & les œuvres de Jean Müller Arg. /

by Briquet, John, 1870-1931.
Published 1896

Dictionnaire détaillé des noms del vêtements chez les arabes : ouvrage couronné et publié par la troisième classe de l'Institut Royal des Pays-Bas /

by Dozy, Reinhart Pieter Anne, 1820-1883., Muller, Johann, ed. (Amsterdam)
Published 1845