1
TÍTULO: Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
AUTORES: Traspas, Ricardo Moreno; Teoh, Tze Shin; Wong, Pui Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bezieau, Stephane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; San Lai, Poh; Piloquet, Hugues; Joubert, Madeleine; Kayserili, Hulya; Kripps, Kimberly A.; Nahas, Shareef A.; Wartchow, Eric P.; Warren, Mikako; Bhavani, Gandham SriLakshmi; Dasouki, Majed; Sandoval, Renata; Carvalho, Elisa; Ramos, Luiza; Porta, Gilda; Bin W; Lashkari, Harsha Prasada; AlSaleem, Badr; BaAbbad, Raeda M.; Abreu Ferrao, Anabela Natalia; Karageorgou, Vasiliki; Ordonez Herrera, Natalia; Khan, Suliman; Bauer, Peter; Cogne, Benjamin; Bertoli Avella, Aida M.; Vincent, Marie; Girisha, Katta Mohan; Reversade, Bruno; ...Mais
PUBLICAÇÃO: 2022, FONTE: NATURE GENETICS, VOLUME: 54, NÚMERO: 8
INDEXADO EM: Scopus WOS
2
TÍTULO: Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
AUTORES: Celine Huber; Eissa Ali Faqeih; Deborah Bartholdi; Christine Bole Feysot; Zvi Borochowitz; Denise P Cavalcanti; Amandine Frigo; Patrick Nitschke; Joelle Roume; Heloisa G Santos; Stavit A Shalev; Andrea Superti Furga; Anne Lise Delezoide; Martine Le Merrer; Arnold Munnich; Valerie Cormier Daire;
PUBLICAÇÃO: 2013, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef