Sandra Whalen
AuthID: R-00F-JNR
1
TÃTULO: Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM) Full Text
AUTORES: Elena J Tucker; Rocio Rius; Sylvie Jaillard; Katrina Bell; Phillipa J Lamont; Andre Travessa; Juliette Dupont; Lurdes Sampaio; Jerome Dulon; Sandrine Vuillaumier Barrot; Sandra Whalen; Arnaud Isapof; Tanya Stojkovic; Susana Quijano Roy; Gorjana Robevska; Jocelyn van den Bergen; Chloe Hanna; Andrea Simpson; Katie Ayers; David R Thorburn; ...Mais
PUBLICAÇÃO: 2020, FONTE: HUMAN GENETICS, VOLUME: 139, NÚMERO: 10
AUTORES: Elena J Tucker; Rocio Rius; Sylvie Jaillard; Katrina Bell; Phillipa J Lamont; Andre Travessa; Juliette Dupont; Lurdes Sampaio; Jerome Dulon; Sandrine Vuillaumier Barrot; Sandra Whalen; Arnaud Isapof; Tanya Stojkovic; Susana Quijano Roy; Gorjana Robevska; Jocelyn van den Bergen; Chloe Hanna; Andrea Simpson; Katie Ayers; David R Thorburn; ...Mais
PUBLICAÇÃO: 2020, FONTE: HUMAN GENETICS, VOLUME: 139, NÚMERO: 10
INDEXADO EM: Scopus WOS
2
TÃTULO: Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum Full Text
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2012, FONTE: HUMAN MUTATION, VOLUME: 33, NÚMERO: 1
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2012, FONTE: HUMAN MUTATION, VOLUME: 33, NÚMERO: 1