Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Shachar Abudi-Sinreich"'
Autor:
Shachar Abudi-Sinreich, Steven P. Bodine, Tadafumi Yokoyama, Nathanial J. Tolman, Michal Tyrlik, Lauren C. Testa, Chen G. Han, Heidi M. Dorward, Stephen M. Wincovitch, Yair Anikster, William A. Gahl, Resat Cinar, Bernadette R. Gochuico, May Christine V. Malicdan
Publikováno v:
Respiratory Research, Vol 23, Iss 1, Pp 1-10 (2022)
Abstract Background HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to idiopathic pulmonary fibrosis (IPF). Hps1 ep/ep (pale ear) is a naturally o
Externí odkaz:
https://doaj.org/article/eac6fc1a82114d36a07a67ff3d28be6a
Autor:
Dina Marek-Yagel, Shachar Abudi-Sinreich, Michal Macarov, Alvit Veber, Nechama Shalva, Amit Mary Philosoph, Ben Pode-Shakked, May Christine V. Malicdan, Yair Anikster
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Hermansky–Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by oculocutaneous albinism (OCA) and bleeding diathesis. To date, 11 HPS types have been reported (HPS-1 to HPS-11), each defined by disease-causing vari
Externí odkaz:
https://doaj.org/article/d052a0aa8c6c4f508f394a32a1bea017
Autor:
Shachar Abudi-Sinreich, Steven P. Bodine, Tadafumi Yokoyama, Nathanial J. Tolman, Michal Tyrlik, Lauren C. Testa, Chen G. Han, Heidi M. Dorward, Stephen M. Wincovitch, Yair Anikster, William A. Gahl, Resat Cinar, Bernadette R. Gochuico, May Christine V. Malicdan
Publikováno v:
Respiratory research. 23(1)
Background HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to idiopathic pulmonary fibrosis (IPF). Hps1ep/ep (pale ear) is a naturally occurring H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab353aba05178dbc109e320cf8058edc
https://pubmed.ncbi.nlm.nih.gov/35509004
https://pubmed.ncbi.nlm.nih.gov/35509004