B. A. Zilfalil
AuthID: R-00K-0RT
1
TÃTULO: Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies
AUTORES: Tamana, S; Xenophontos, M; Minaidou, A; Stephanou, C; Harteveld, CL; Bento, C; Traeger Synodinos, J; Fylaktou, I; Yasin, NM; Abdul Hamid, FS; Esa, E; Halim Fikri, H; Zilfalil, BA; Kakouri, AC; Kleanthous, M; Kountouris, P; Hemoglobinopathy Variant Curation Expert Panel ClinGen;
PUBLICAÇÃO: 2022, FONTE: ELIFE, VOLUME: 11
AUTORES: Tamana, S; Xenophontos, M; Minaidou, A; Stephanou, C; Harteveld, CL; Bento, C; Traeger Synodinos, J; Fylaktou, I; Yasin, NM; Abdul Hamid, FS; Esa, E; Halim Fikri, H; Zilfalil, BA; Kakouri, AC; Kleanthous, M; Kountouris, P; Hemoglobinopathy Variant Curation Expert Panel ClinGen;
PUBLICAÇÃO: 2022, FONTE: ELIFE, VOLUME: 11
INDEXADO EM: 
Scopus 
WOS
Scopus WOS2
TÃTULO: Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel Full Text
AUTORES: Kountouris, P; Stephanou, C; Lederer, CW; Traeger Synodinos, J; Bento, C; Harteveld, CL; Fylaktou, E; Koopmann, TT; Halim Fikri, H; Michailidou, K; Nfonsam, LE; Waye, JS; Zilfalil, BA; Kleanthous, M;
PUBLICAÇÃO: 2021, FONTE: HUMAN MUTATION
AUTORES: Kountouris, P; Stephanou, C; Lederer, CW; Traeger Synodinos, J; Bento, C; Harteveld, CL; Fylaktou, E; Koopmann, TT; Halim Fikri, H; Michailidou, K; Nfonsam, LE; Waye, JS; Zilfalil, BA; Kleanthous, M;
PUBLICAÇÃO: 2021, FONTE: HUMAN MUTATION
INDEXADO EM: Scopus WOS
Scopus WOS