All papers authored by Frederic Tran Mau Them
Refreshing results…
2022
Elsa Leitão 
,
Christopher Schröder,
Ilaria Parenti ,
Carine Dalle,
Agnès Rastetter,
Theresa Kühnel ,
Alma Kuechler,
Sabine Kaya,
Bénédicte Gérard,
Elise Schaefer,
Caroline Nava ,
Nathalie Drouot,
Camille Engel,
Juliette Piard ,
Bénédicte Duban-Bedu
and 22 other authors
Download from doi.org
,
Christopher Schröder,
Ilaria Parenti ,
Carine Dalle,
Agnès Rastetter,
Theresa Kühnel ,
Alma Kuechler,
Sabine Kaya,
Bénédicte Gérard,
Elise Schaefer,
Caroline Nava ,
Nathalie Drouot,
Camille Engel,
Juliette Piard ,
Bénédicte Duban-Bedu
and 22 other authors
Download from doi.org
Mylène Tharreau ,
Christel Thauvin‐Robinet,
Godelieve Morel,
Aurore Garde,
Christophe Philippe,
Sophie Nambot,
Sandrine Marlin,
Ninon Ternoy,
Sylvain Ernest,
Yannis Duffourd,
Christian Duvillard,
Siddharth Banka ,
Frederic Tran Mau‐Them ,
Laurence Faivre
,
Christel Thauvin‐Robinet,
Godelieve Morel,
Aurore Garde,
Christophe Philippe,
Sophie Nambot,
Sandrine Marlin,
Ninon Ternoy,
Sylvain Ernest,
Yannis Duffourd,
Christian Duvillard,
Siddharth Banka ,
Frederic Tran Mau‐Them ,
Laurence Faivre
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D
Upload
Imke N. Van Kessel,
Marie Vincent,
Mathys Weber,
Marjolaine Willems,
Nathalie Ruiz-Pallares,
Frederic Tran-Mau-Them ,
Bekim Sadikovic,
Flavien Rouxel,
Raissa Relator,
Jennifer Kerkhof,
Haley McConkey,
Michael Levy,
Florian Cherik,
Patricia Dias,
Andrée Delahaye-Duriez
and 19 other authors
Upload
,
Bekim Sadikovic,
Flavien Rouxel,
Raissa Relator,
Jennifer Kerkhof,
Haley McConkey,
Michael Levy,
Florian Cherik,
Patricia Dias,
Andrée Delahaye-Duriez
and 19 other authors
Upload
2021
Audrey Schalk,
Karen E. Wain,
Aurélien Trimouille ,
Julien Van-Gils,
Camerun Washington,
Gabriella Vera,
Christiane Zweier,
Matias Wagner ,
Heike Weigand,
Koen van Gassen,
Yuri Alexander Zarate,
Michael T. Zimmermann,
Margot A. Cousin,
Nikita R. Dsouza,
Thomas D. Challman
and 57 other authors
Upload
,
Julien Van-Gils,
Camerun Washington,
Gabriella Vera,
Christiane Zweier,
Matias Wagner ,
Heike Weigand,
Koen van Gassen,
Yuri Alexander Zarate,
Michael T. Zimmermann,
Margot A. Cousin,
Nikita R. Dsouza,
Thomas D. Challman
and 57 other authors
Upload
Anne-Sophie Denommé-Pichon ,
Antonio Vitobello ,
Robert Olaso ,
Alban Ziegler,
Médéric Jeanne ,
Thibaud Jouan,
Anne Boland ,
Bertrand Fin,
Delphine Bacq-Daian,
Victor Couturier,
Céline Besse,
Marie Vincent ,
Aurore Garde,
Caroline Racine ,
Adeline Prost
and 33 other authors
Upload
,
Antonio Vitobello ,
Robert Olaso ,
Alban Ziegler,
Médéric Jeanne ,
Thibaud Jouan,
Anne Boland ,
Bertrand Fin,
Delphine Bacq-Daian,
Victor Couturier,
Céline Besse,
Marie Vincent ,
Aurore Garde,
Caroline Racine ,
Adeline Prost
and 33 other authors
Upload
Katrine M. Johannesen,
Sandra Whalen,
Elena Gardella,
Cathrine E. Gjerulfsen,
Rob Pw Rouhl,
Margot Reijnders,
Boris Keren,
Frederic Tran Mau Them ,
Allan Bayat,
Julien Buratti,
Thomas Courtin,
Anne-Sophie Denommé-Pichon
,
Allan Bayat,
Julien Buratti,
Thomas Courtin,
Anne-Sophie Denommé-Pichon
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Upload
Juliette Coursimault,
Anne-Marie Guerrot,
Michelle M. Morrow,
Francisca Millan Zamora,
Ange-Line Bruel,
Catherine Schramm,
Anne-Sophie Denommé-Pichon ,
Laurence Faivre,
Stéphanie Valence,
Marine Tessarech,
Anita Shanmugham,
Estelle Colin,
Salima El Chehadeh,
Bénédicte Gérard,
Fanggeng Zou
and 55 other authors
Upload
,
Laurence Faivre,
Stéphanie Valence,
Marine Tessarech,
Anita Shanmugham,
Estelle Colin,
Salima El Chehadeh,
Bénédicte Gérard,
Fanggeng Zou
and 55 other authors
Upload
Frederic Tran Mau-Them,
Antonio Vitobello,
Yannis Duffourd,
Ange-Line Bruel,
Anne-Sophie Denommé-Pichon ,
Sophie Nambot,
Frederic Tran Mau Them ,
Victor Couturier,
Julian Delanne,
Valentin Bourgeois,
Sebastien Moutton,
Martin Chevarin,
Charlotte Poe,
Arthur Sorlin,
Anne-Laure Mosca-Boidron
and 6 other authors
Upload
,
Sophie Nambot,
Frederic Tran Mau Them ,
Victor Couturier,
Julian Delanne,
Valentin Bourgeois,
Sebastien Moutton,
Martin Chevarin,
Charlotte Poe,
Arthur Sorlin,
Anne-Laure Mosca-Boidron
and 6 other authors
Upload
Antonio Vitobello,
Marjolaine Willems,
Julian Delanne,
Ange-Line Bruel,
Frédéric Huet,
Sébastien Moutton,
Sophie Nambot,
Nolwenn Jean-Marcais,
Anne-Laure Mosca-Boidron,
Frédéric Tran Mau-Them,
Margot Grisval,
Anne-Sophie Denommé-Pichon ,
Nada Houcinat,
Daphné Lehalle,
Salima El Chehadeh
and 23 other authors
Upload
,
Nada Houcinat,
Daphné Lehalle,
Salima El Chehadeh
and 23 other authors
Upload
Jean‐Marie Ravel ,
Natacha Dreumont,
Pauline Mosca,
Desiree Ec C. Smith,
Marisa I. Mendes,
Jean‐Baptiste Rivière,
Arnaud Wiedemann,
Frédéric Tran Mau‐Them ,
David Coelho,
Frédéric Tran Mau‐Them,
Julien Thevenon,
Emmanuelle Schmitt,
Paul Kuentz ,
Marc Polivka,
Sabine A. Fuchs
and 6 other authors
Upload
,
Natacha Dreumont,
Pauline Mosca,
Desiree Ec C. Smith,
Marisa I. Mendes,
Jean‐Baptiste Rivière,
Arnaud Wiedemann,
Frédéric Tran Mau‐Them ,
David Coelho,
Frédéric Tran Mau‐Them,
Julien Thevenon,
Emmanuelle Schmitt,
Paul Kuentz ,
Marc Polivka,
Sabine A. Fuchs
and 6 other authors
Upload
Jérémie Courraud,
Eric Chater-Diehl,
Maria del Mar Muniz Moreno,
Benjamin Durand,
Marie Vincent,
Imene Boujelbene,
Bénédicte Gerard,
Marc Abramowicz,
Nathalie Drouot,
Benjamin Cogné,
Lucas Bronicki,
Loréline Genschik,
Lydie Burglen,
Magalie Barth,
Elise Schaefer
and 56 other authors
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Upload
Clara Velmans ,
Anne H. O'Donnell Luria,
Emanuela Argilli,
Frederic Tran Mau-Them,
Frederic Tran Mau-Them ,
Antonio Vitobello ,
Marcus Cy Chan,
Jasmine Lee-Fong Fung,
Megan Rech,
Angela Abicht,
Marion Aubert Mucca ,
Marion Aubert Mucca,
Jason Carmichael,
Nicolas Chassaing,
Robin Clark
and 26 other authors
Upload
,
Anne H. O'Donnell Luria,
Emanuela Argilli,
Frederic Tran Mau-Them,
Frederic Tran Mau-Them ,
Antonio Vitobello ,
Marcus Cy Chan,
Jasmine Lee-Fong Fung,
Megan Rech,
Angela Abicht,
Marion Aubert Mucca ,
Marion Aubert Mucca,
Jason Carmichael,
Nicolas Chassaing,
Robin Clark
and 26 other authors
Upload
Jair Antonio Tenorio‐Castaño,
Sara Álvarez,
Camerun Washington,
Frederic Tran‐Mau‐Them ,
The S. O. G. R. I. Consortium,
Pedro Arias,
Alberto Fernández‐Jaén,
Guillermo Lay‐Son,
Gloria Bueno‐Lozano,
Sergio Ramos,
Allan Bayat,
Laurence Faivre ,
Chantal Morel,
Stasia Hadjiyannakis,
Natalia Gallego
and 9 other authors
,
The S. O. G. R. I. Consortium,
Pedro Arias,
Alberto Fernández‐Jaén,
Guillermo Lay‐Son,
Gloria Bueno‐Lozano,
Sergio Ramos,
Allan Bayat,
Laurence Faivre ,
Chantal Morel,
Stasia Hadjiyannakis,
Natalia Gallego
and 9 other authors
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features
Upload
Kévin Uguen ,
Eléonore Viora‐Dupont,
Séverine Audebert‐Bellanger,
Kilannin Krysiak ,
Frederic Tran Mau‐Them ,
Sylvia Redon,
Caroline Benech,
Julie Neidich,
Celia Azevedo Soares,
Natáliya Tkachenko,
Shivarajan M. Amudhavalli,
Kendra Engleman,
Sophie Rondeau,
Anne Boland,
Jean‐François Deleuze
and 13 other authors
Upload
,
Eléonore Viora‐Dupont,
Séverine Audebert‐Bellanger,
Kilannin Krysiak ,
Frederic Tran Mau‐Them ,
Sylvia Redon,
Caroline Benech,
Julie Neidich,
Celia Azevedo Soares,
Natáliya Tkachenko,
Shivarajan M. Amudhavalli,
Kendra Engleman,
Sophie Rondeau,
Anne Boland,
Jean‐François Deleuze
and 13 other authors
Upload
Frederic Tran Mau Them
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Upload
Guang Yang,
Melissa J. MacPherson,
Xing-Chang Wei,
Sarah L. Erickson,
Pengqiang Wen,
Drayden Kopp,
Mohamad-Reza Aghanoori,
Antonio Vitobello,
Nina B. Gold,
Shreeya Kedia,
William Brucker,
Louise Amlie-Wolf,
Kaylan Ml L. Burns,
Karen W. Gripp,
Olaf Bodamer
and 12 other authors
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates
Download from doi.org
Quentin Thomas ,
Antonio Vitobello,
Frederic Tran Mau-Them,
Yannis Duffourd,
Frédéric Tran Mau-Them ,
Agnès Fromont,
Maurice Giroud,
Guy-Victor Osseby,
Benoit Daubail,
Agnès Jacquin-Piques,
Sophie Nambot,
Thibault Moreau,
Marie Hervieu-Begue,
Arthur Sorlin,
Philippine Garret
and 9 other authors
,
Antonio Vitobello,
Frederic Tran Mau-Them,
Yannis Duffourd,
Frédéric Tran Mau-Them ,
Agnès Fromont,
Maurice Giroud,
Guy-Victor Osseby,
Benoit Daubail,
Agnès Jacquin-Piques,
Sophie Nambot,
Thibault Moreau,
Marie Hervieu-Begue,
Arthur Sorlin,
Philippine Garret
and 9 other authors
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
UploadMissing publications? Search for publications with a matching author name.