ProfileOfResearchers

TÃTULO: 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

TÃTULO: Erratum to: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 (Nature, (2018), 557, 7706, (564-569), 10.1038/s41586-018-0118-y)
AUTORES: Szenker Ravi, E; Altunoglu, U; Leushacke, M; Bosso Lefèvre, C; Khatoo, M; Thi Tran, H; Naert, T; Noelanders, R; Hajamohideen, A; Beneteau, C; de Sousa, SB; Karaman, B; Latypova, X; Başaran, S; Yücel, EB; Tan, TT; Vlaminck, L; Nayak, SS; Shukla, A; Girisha, KM; Le Caignec, C; Soshnikova, N; Uyguner, ZO; Vleminckx, K; Barker, N; Kayserili, H; Reversade, B; ...Mais
PUBLICAÇÃO: 2018, FONTE: Nature, VOLUME: 561, NÚMERO: 7722

INDEXADO EM:

Scopus

TÃTULO: Mucolipidosis type II a/ss with a homozygous missense mutation in the GNPTAB gene Full Text
AUTORES: Maria Francisca Coutinho; Liliana da Silva Santos; Katta Mohan Girisha; Kapaettu Satyamoorthy; Lucia Lacerda; Maria Joao Prata ; Sandra Alves;
PUBLICAÇÃO: 2012, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 158A, NÚMERO: 5

INDEXADO EM:

Scopus

WOS

Links Úteis