Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Omid Daneshjoo"'
Publikováno v:
Clinical Case Reports, Vol 8, Iss 12, Pp 2333-2340 (2020)
Abstract This research resulted in the identification and submission of a novel RUNX2 gene mutation in the affected members of the studied pedigree. Mutation screening is an effective method for the early diagnosis of CCD in the affected individuals.
Externí odkaz:
https://doaj.org/article/6fcf3d08fd4949dd8c0e92e158db6624
Publikováno v:
Clinical Case Reports, Vol 8, Iss 8, Pp 1445-1451 (2020)
Abstract We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same NM_000138.4:c.6872‐1G > T splice site mutation in the FBN1 gene was detected in 37 affected individuals with different pathological phenotypes. Fu
Externí odkaz:
https://doaj.org/article/7f104b6bfbe44f189a9e417a701c29cf
Autor:
Omid Daneshjoo, Masoud Garshasbi
Publikováno v:
Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-7 (2018)
Abstract Background Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed inco
Externí odkaz:
https://doaj.org/article/842a1ea65679466dac466528bc80c53b
Publikováno v:
Clinical Case Reports
Clinical Case Reports, Vol 8, Iss 8, Pp 1445-1451 (2020)
Clinical Case Reports, Vol 8, Iss 8, Pp 1445-1451 (2020)
We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same NM_000138.4:c.6872‐1G > T splice site mutation in the FBN1 gene was detected in 37 affected individuals with different pathological phenotypes. Further stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9cc97ad6002d620cf9e0a60e6b0d5f8
http://europepmc.org/articles/PMC7455403
http://europepmc.org/articles/PMC7455403
Autor:
Masoud Garshasbi, Omid Daneshjoo
Publikováno v:
Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-7 (2018)
Journal of Medical Case Reports
Journal of Medical Case Reports
Background Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3462d3bc7fef16abd14c8f28f7cdb90b
http://link.springer.com/article/10.1186/s13256-018-1608-0
http://link.springer.com/article/10.1186/s13256-018-1608-0
Publikováno v:
Meta Gene. 24:100698
Background Congenital muscular dystrophies (CMDs) are a group of clinical and genetic heterogeneous neuromuscular disorders with the onset of affection at birth or during infancy. Megaconial congenital muscular dystrophy (MDCMC) is a form of CMDs wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4fb28b2044f527a2b18476ba8c6bca8
https://doi.org/10.1016/j.mgene.2020.100698
https://doi.org/10.1016/j.mgene.2020.100698