Delphine Heron


AuthID: R-00G-CRV

Publicações a aguardar confirmação

1
TÍTULO: CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature
AUTORES: Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye Duriez, Andree; Doco Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W.; Heron, Delphine; Hildebrand, Michael S.; Lesca, Gaetan; Lespinasse, James; Mazel, Benoit; Menke, Leonie A.; Morgan, Angela T.; Pinson, Lucile; Quelin, Chloe; Rossi, Massimiliano; Ruiz Pallares, Nathalie; Tran Mau Them, Frederic; Van Kessel, Imke N.; Vincent, Marie; Weber, Mathys; Willems, Marjolaine; Leguyader, Gwenael; Sadikovic, Bekim; Genevieve, David; ...Mais
PUBLICAÇÃO: 2022, FONTE: GENETICS IN MEDICINE, VOLUME: 24, NÚMERO: 5
INDEXADO EM: Scopus WOS
2
TÍTULO: Delineating theGRIN1phenotypic spectrum. A distinct genetic NMDA receptor encephalopathy
AUTORES: Johannes R Lemke; Kirsten Geider; Katherine L Helbig; Henrike O Heyne; Hannah Schütz; Julia Hentschel; Carolina Courage; Christel Depienne; Caroline Nava; Delphine Heron; Rikke S Møller; Helle Hjalgrim; Dennis Lal; Bernd A Neubauer; Peter Nürnberg; Holger Thiele; Gerhard Kurlemann; Georgianne L Arnold; Vikas Bhambhani; Deborah Bartholdi; Christeen Ramane J Pedurupillay; Doriana Misceo; Eirik Frengen; Petter Strømme; Dennis J Dlugos; Emily S Doherty; Emilia K Bijlsma; Claudia A Ruivenkamp; Mariette J.V Hoffer; Amy Goldstein; Deepa S Rajan; Vinodh Narayanan; Keri Ramsey; Newell Belnap; Isabelle Schrauwen; Ryan Richholt; Bobby P.C Koeleman; Joaquim Sá; Carla Mendonça; Carolien G.F de Kovel; Sarah Weckhuysen; Katia Hardies; Peter De Jonghe; Linda De Meirleir; Mathieu Milh; Catherine Badens; Marine Lebrun; Tiffany Busa; Christine Francannet; Amélie Piton; Erik Riesch; Saskia Biskup; Heinrich Vogt; Thomas Dorn; Ingo Helbig; Jacques L Michaud; Bodo Laube; Steffen Syrbe; ...Mais
PUBLICAÇÃO: 2016, FONTE: Neurology, VOLUME: 86, NÚMERO: 23
INDEXADO EM: CrossRef
3
TÍTULO: The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP  Full Text
AUTORES: Sarah M Nikkel; Andrew Dauber; Sonja de Munnik; Meghan Connolly; Rebecca L Hood; Oana Caluseriu; Jane Hurst; Usha Kini; Malgorzata J M Nowaczyk; Alexandra Afenjar; Beate Albrecht; Judith E Allanson; Paolo Balestri; Tawfeg Ben Omran; Francesco Brancati; Isabel Cordeiro; Bruna Santos da Cunha; Louisa A Delaney; Anne Destree; David Fitzpatrick; Francesca Forzano; Neeti Ghali; Greta Gillies; Katerina Harwood; Yvonne M C Hendriks; Delphine Heron; Alexander Hoischen; Engela Magdalena Honey; Lies H Hoefsloot; Jennifer Ibrahim; Claire M Jacob; Sarina G Kant; Chong Ae Kim; Edwin P Kirk; Nine V A M Knoers; Didier Lacombe; Chung Lee; Ivan F M Lo; Luiza S Lucas; Francesca Mari; Veronica Mericq; Jukka S Moilanen; Sanne Traasdahl Moller; Stephanie Moortgat; Daniela T Pilz; Kate Pope; Susan Price; Alessandra Renieri; Joaquim Sa; Jeroen Schoots; Elizabeth L Silveira; Marleen E H Simon; Anne Slavotinek; Karen K Temple; Ineke van der Burgt; Bert B A de Vries; James D Weisfeld Adams; Margo L Whiteford; Dagmar Wierczorek; Jan M Wit; Connie Fung On Yee; Chandree L Beaulieu; Sue M White; Dennis E Bulman; Ernie Bongers; Han Brunner; Murray Feingold; Kym M Boycott; ...Mais
PUBLICAÇÃO: 2013, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef
4
TÍTULO: 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; Martine Le Merrer; Marlene Rio; Dragana Josifova; Johanna Maria Van Hagen; Didier Lacombe; Patrick Edery; Sophie Dupuis Girod; Audrey Putoux; Damien Sanlaville; Richard Fischer; Loic Drevillon; Audrey Briand Suleau; Corinne Metay; Michel Goossens; Jeanne Amiel; Aurelia Jacquette; Irina Giurgea; ...Mais
PUBLICAÇÃO: 2012, FONTE: HUMAN MUTATION, VOLUME: 33, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef

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