Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Mahbubeh Kasiri"'
Autor:
Mahdieh Hassani, Sara Taghizadeh, Anahita Farahzad Broujeni, Mahvash Habibi, Setareh Banitalebi, Mahbubeh Kasiri, Alireza Sadeghi, Ahoura Nozari
Publikováno v:
Advanced Biomedical Research, Vol 12, Iss 1, Pp 114-114 (2023)
Background: Weill–Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by locus heterogeneity and variable expressivity. Patients suffering from WMS are described by short stature, brachydactyly, joint stiffness, congenital
Externí odkaz:
https://doaj.org/article/c53ac74f96a04883b9b9280116e47073
Autor:
Ahoura Nozari, Mahdieh Hassani, Sara Taghizadeh, Anahita Farahzad Broujeni, Mahvash Habibi, Setareh Banitalebi, Mahbubeh Kasiri, Alireza Sadeghi
Publikováno v:
Advanced Biomedical Research. 12:114
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d965f313a609e4c80fdbfaf0f9e7b7ea
https://doi.org/10.4103/abr.abr_138_22
https://doi.org/10.4103/abr.abr_138_22
Autor:
Paria Alipour, Morteza Hashemzadeh Chaleshtori, Mohammad Amin Tabatabaiefar, Fateme Rezaeian, Azam Pourahmadiyan, Mahbubeh Kasiri, Najmeh Fattahi, Javad Mohammadi-Asl, Afsaneh Taghipour-Sheshdeh
Publikováno v:
International Journal of Audiology. 58:628-634
Objective: Hearing loss (HL) is a common sensory deficit with high phenotypic and genotypic heterogeneity. A large Iranian family with HL was genetically assessed in this study.Design: A pr...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8c052180abf83760d02bc74b034f6305
https://doi.org/10.1080/14992027.2019.1619945
https://doi.org/10.1080/14992027.2019.1619945
Autor:
Azam, Pourahmadiyan, Paria, Alipour, Najmeh, Fattahi, Mahbubeh, Kasiri, Fateme, Rezaeian, Afsaneh, Taghipour-Sheshdeh, Javad, Mohammadi-Asl, Mohammad Amin, Tabatabaiefar, Morteza, Hashemzadeh Chaleshtori
Publikováno v:
International journal of audiology. 58(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7de073a877dc5b8da56d61d2a0331574
https://pubmed.ncbi.nlm.nih.gov/31187663
https://pubmed.ncbi.nlm.nih.gov/31187663
Publikováno v:
Indian Journal of Human Genetics
Progressive familial intrahepatic cholestasis is an autosomal recessive liver disorder caused by (biallelic) mutations in the ATP8B1 of ABCB11 gene. A nine-year-old girl with cholestasis was referred for genetic counseling. She had a family history o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed4a6674d65dd4fa02d41eb439758228
http://europepmc.org/articles/PMC3841569
http://europepmc.org/articles/PMC3841569