Ivan F. M. Lo
AuthID: R-00G-CTC
1
TÃTULO: Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
AUTORES: Justyna A Karolak; Qian Liu; Nina N G Xie; Lucia R Wu; Gustavo Rocha; Susana Fernandes; Luk Ho Ming; Ivan F Lo; David Mowat; Elizabeth K Fiorino; Morris Edelman; Joyce Fox; Denise A Hayes; David Witte; Ashley Parrott; Edwina Popek; Przemyslaw Szafranski; David Y Zhang; Pawel Stankiewicz;
PUBLICAÇÃO: 2020, FONTE: JOURNAL OF MOLECULAR DIAGNOSTICS, VOLUME: 22, NÚMERO: 4
AUTORES: Justyna A Karolak; Qian Liu; Nina N G Xie; Lucia R Wu; Gustavo Rocha; Susana Fernandes; Luk Ho Ming; Ivan F Lo; David Mowat; Elizabeth K Fiorino; Morris Edelman; Joyce Fox; Denise A Hayes; David Witte; Ashley Parrott; Edwina Popek; Przemyslaw Szafranski; David Y Zhang; Pawel Stankiewicz;
PUBLICAÇÃO: 2020, FONTE: JOURNAL OF MOLECULAR DIAGNOSTICS, VOLUME: 22, NÚMERO: 4
INDEXADO EM: 
Scopus 
WOS
Scopus WOS2
TÃTULO: Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain Full Text
AUTORES: Partha Sen; Yaping P Yang; Colby Navarro; Iris Silva; Przemyslaw Szafranski; Katarzyna E Kolodziejska; Avinash V Dharmadhikari; Hasnaa Mostafa; Harry Kozakewich; Debra Kearney; John B Cahill; Merrissa Whitt; Masha Bilic; Linda Margraf; Adrian Charles; Jack Goldblatt; Kathleen Gibson; Patrick E Lantz; Julian J Garvin; John Petty; ...Mais
PUBLICAÇÃO: 2013, FONTE: HUMAN MUTATION, VOLUME: 34, NÚMERO: 6
AUTORES: Partha Sen; Yaping P Yang; Colby Navarro; Iris Silva; Przemyslaw Szafranski; Katarzyna E Kolodziejska; Avinash V Dharmadhikari; Hasnaa Mostafa; Harry Kozakewich; Debra Kearney; John B Cahill; Merrissa Whitt; Masha Bilic; Linda Margraf; Adrian Charles; Jack Goldblatt; Kathleen Gibson; Patrick E Lantz; Julian J Garvin; John Petty; ...Mais
PUBLICAÇÃO: 2013, FONTE: HUMAN MUTATION, VOLUME: 34, NÚMERO: 6
3
TÃTULO: 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; ...Mais
PUBLICAÇÃO: 2013, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, NÚMERO: 1
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; ...Mais
PUBLICAÇÃO: 2013, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, NÚMERO: 1
