Juliette Piard
AuthID: R-00G-CRW
1
TITLE: ARTICLE Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
AUTHORS: Kornak, Uwe; Saha, Namrata; Keren, Boris; Neumann, Alexander; Tavares, Ana Lisa Taylor; Piard, Juliette; Kopp, Johannes; Alves, Joao Guilherme Rodrigues; de los Santos, Miguel Rodriguez; El Choubassi, Naji; Ehmke, Nadja; Jaeger, Marten; Spielmann, Malte; Pantel, Jean Tori; Lejeune, Elodie; Fauler, Beatrix; Mielke, Thorsten; Hecht, Jochen; Meierhofer, David; Strom, Tim M.; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 9
AUTHORS: Kornak, Uwe; Saha, Namrata; Keren, Boris; Neumann, Alexander; Tavares, Ana Lisa Taylor; Piard, Juliette; Kopp, Johannes; Alves, Joao Guilherme Rodrigues; de los Santos, Miguel Rodriguez; El Choubassi, Naji; Ehmke, Nadja; Jaeger, Marten; Spielmann, Malte; Pantel, Jean Tori; Lejeune, Elodie; Fauler, Beatrix; Mielke, Thorsten; Hecht, Jochen; Meierhofer, David; Strom, Tim M.; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 9
INDEXED IN: 
WOS
WOS2
TITLE: Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1 Full Text
AUTHORS: Juliette Piard; James Lespinasse; Marketa Vlckova; Martin A Mensah; Sorin Iurian; Martina Simandlova; Marcela Malikova; Oliver Bartsch; Massimiliano Rossi; Marion Lenoir; Frederique Nugues; Stefan Mundlos; Uwe Kornak; Philip Stanier; Sergio B Sousa; Lionel Van Maldergem;
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 176, ISSUE: 3
AUTHORS: Juliette Piard; James Lespinasse; Marketa Vlckova; Martin A Mensah; Sorin Iurian; Martina Simandlova; Marcela Malikova; Oliver Bartsch; Massimiliano Rossi; Marion Lenoir; Frederique Nugues; Stefan Mundlos; Uwe Kornak; Philip Stanier; Sergio B Sousa; Lionel Van Maldergem;
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 176, ISSUE: 3
INDEXED IN: WOS
WOS3
TITLE: Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function Full Text
AUTHORS: Lyse Ruaud; Gillian I Rice; Christelle Cabrol; Juliette Piard; Mathieu Rodero; Lien van Eyk; Elise Boucher Brischoux; Alain Maertens de Noordhout; Ricardo Mare; Emmanuel Scalais; Fernand Pauly; Francois Guillaume Debray; William Dobyns; Carolina Uggenti; Ji Woo Park; Sun Hur; John H Livingston; Yanick J Crow; Lionel Van Maldergem;
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 8
AUTHORS: Lyse Ruaud; Gillian I Rice; Christelle Cabrol; Juliette Piard; Mathieu Rodero; Lien van Eyk; Elise Boucher Brischoux; Alain Maertens de Noordhout; Ricardo Mare; Emmanuel Scalais; Fernand Pauly; Francois Guillaume Debray; William Dobyns; Carolina Uggenti; Ji Woo Park; Sun Hur; John H Livingston; Yanick J Crow; Lionel Van Maldergem;
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 8
INDEXED IN: 
Scopus WOS
Scopus WOS4
TITLE: Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum Full Text
AUTHORS: Sandra Whalen; Delphine Heron; Thierry Gaillon; Oana Moldovan; Massimiliano Rossi; Franc Oise Devillard; Fabienne Giuliano; Gabriela Soares; Michelle Mathieu Dramard; Alexandra Afenjar; Perrine Charles; Cyril Mignot; Lydie Burglen; Lionel Van Maldergem; Juliette Piard; Salim Aftimos; Grazia Mancini; Patricia Dias; Nicole Philip; Alice Goldenberg; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 1
AUTHORS: Sandra Whalen; Delphine Heron; Thierry Gaillon; Oana Moldovan; Massimiliano Rossi; Franc Oise Devillard; Fabienne Giuliano; Gabriela Soares; Michelle Mathieu Dramard; Alexandra Afenjar; Perrine Charles; Cyril Mignot; Lydie Burglen; Lionel Van Maldergem; Juliette Piard; Salim Aftimos; Grazia Mancini; Patricia Dias; Nicole Philip; Alice Goldenberg; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 1
