BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

Archive ouverte

Engel, Camille | Valence, Stephanie | Delplancq, Geoffroy | Maroofian, Reza | Accogli, Andrea | Agolini, Emanuele | Alkuraya, Fowzan S. | Baglioni, Valentina | Bagnasco, Irene | Becmeur-Lefebvre, Mathilde | Bertini, Enrico | Borggraefe, Ingo | Brischoux-Boucher, Elise | Bruel, Ange-Line | Brusco, Alfredo | Bubshait, Dalal K. | Cabrol, Christelle | Cilio, Maria Roberta | Cornet, Marie-Coralie | Coubes, Christine | Danhaive, Olivier | Delague, Valérie | Denomme-Pichon, Anne-Sophie | Di Giacomo, Marilena Carmela | Doco-Fenzy, Martine | Engels, Hartmut | Cremer, Kirsten | Gerard, Marion | Gleeson, Joseph G. | Heron, Delphine | Goffeney, Joanna | Guimier, Anne | Harms, Frederike L. | Houlden, Henry | Iacomino, Michele | Kaiyrzhanov, Rauan | Kamien, Benjamin | Karimiani, Ehsan Ghayoor | Kraus, Dror | Kuentz, Paul | Kutsche, Kerstin | Lederer, Damien | Massingham, Lauren | Mignot, Cyril | Morris-Rosendahl, Deborah | Nagarajan, Lakshmi | Odent, Sylvie | Ormieres, Clothilde | Partlow, Jennifer Neil | Pasquier, Laurent | Penney, Lynette | Philippe, Christophe | Piccolo, Gianluca | Poulton, Cathryn | Putoux, Audrey | Rio, Marlene | Rougeot, Christelle | Salpietro, Vincenzo | Scheffer, Ingrid | Schneider, Amy | Srivastava, Siddharth | Straussberg, Rachel | Striano, Pasquale | Valente, Enza Maria | Venot, Perrine | Villard, Laurent | Vitobello, Antonio | Wagner, Johanna | Wagner, Matias | Zaki, Maha S. | Zara, Federizo | Lesca, Gaetan | Yassaee, Vahid Reza | Miryounesi, Mohammad | Hashemi-Gorji, Farzad | Beiraghi, Mehran | Ashrafzadeh, Farah | Galehdari, Hamid | Walsh, Christopher | Novelli, Antonio | Tacke, Moritz | Sadykova, Dinara | Maidyrov, Yerdan | Koneev, Kairgali | Shashkin, Chingiz | Capra, Valeria | Zamani, Mina | Van Maldergem, Lionel | Burglen, Lydie | Piard, Juliette

Edité par CCSD ; Nature Publishing Group -

International audience

Suggestions

Du même auteur

PFMG2025–integrating genomic medicine into the national healthcare system in France

Archive ouverte | Abadie, Caroline | CCSD

International audience. Integrating genomic medicine into healthcare systems is a health policy challenge that requires continuously transferring scientific advances into clinics and ensuring equal access for patien...

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Archive ouverte | Cali, Elisa | CCSD

International audience. PurposeThis study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelo...

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Archive ouverte | Salpietro, Vincenzo | CCSD

International audience. AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following po...

Chargement des enrichissements...