Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ann Chivers"'
Autor:
Natascia Tahani, Pietro Maffei, Hélène Dollfus, Richard Paisey, Diana Valverde, Gabriella Milan, Joan C. Han, Francesca Favaretto, Shyam C. Madathil, Charlotte Dawson, Matthew J. Armstrong, Adrian T. Warfield, Selma Düzenli, Clair A. Francomano, Meral Gunay-Aygun, Francesca Dassie, Vincent Marion, Marina Valenti, Kerry Leeson-Beevers, Ann Chivers, Richard Steeds, Timothy Barrett, Tarekegn Geberhiwot
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-22 (2020)
Abstract Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease characterised by visual disturba
Externí odkaz:
https://doaj.org/article/f52e156af0f74a13905c04ea325feb2c
Autor:
Shyam Madathil, Hélène Dollfus, Vincent Marion, Timothy Barrett, Ann Chivers, Marina Valenti, Richard P. Steeds, Clair A. Francomano, Natascia Tahani, Matthew J. Armstrong, Meral Gunay-Aygun, Charlotte Dawson, Selma Düzenli, Pietro Maffei, Gabriella Milan, Kerry Leeson-Beevers, Francesca Favaretto, Tarekegn Geberhiwot, Joan C. Han, Adrian T. Warfield, Francesca Dassie, Diana Valverde, Richard B Paisey
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-22 (2020)
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-22 (2020)
Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease characterised by visual disturbance, hear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b09568ef0cc0bc092f5a9756442449e8
http://europepmc.org/articles/PMC7504843
http://europepmc.org/articles/PMC7504843