Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Molly Marra"'
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 30, Iss , Pp 101842- (2023)
Purpose: We present a unique case of foveomacular vitelliform lesions in a patient with metabolic encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Observations: After performing large panel next generation sequencing genetic testi
Externí odkaz:
https://doaj.org/article/6e5c0f7252cb493ebf1810e4f56eed47
Publikováno v:
eLife, Vol 8 (2019)
The trafficking mechanisms and transcriptional targets downstream of long-range neurotrophic factor ligand/receptor signaling that promote axon growth are incompletely understood. Zebrafish carrying a null mutation in a neurotrophic factor receptor,
Externí odkaz:
https://doaj.org/article/53e5df06c6ce4567a21e501b970d0619
Autor:
Hafiz Muhammad Jafar Hussain, Meng Wang, Austin Huang, Ryan Schmidt, Xinye Qian, Paul Yang, Molly Marra, Yumei Li, Mark E. Pennesi, Rui Chen
Publikováno v:
Genes
Volume 14
Issue 2
Pages: 447
Volume 14
Issue 2
Pages: 447
Inherited retinal diseases (IRDs) are a diverse set of visual disorders that collectively represent a major cause of early-onset blindness. With the reduction in sequencing costs in recent years, whole-genome sequencing (WGS) is being used more frequ
Autor:
Shu Wen, Meng Wang, Xinye Qian, Yumei Li, Keqing Wang, Jongsu Choi, Mark E Pennesi, Paul Yang, Molly Marra, Robert K Koenekoop, Irma Lopez, Anna Matynia, Michael Gorin, Ruifang Sui, Fengxia Yao, Kerry Goetz, Fernanda Belga Ottoni Porto, Rui Chen
Publikováno v:
bioRxiv
Despite increasing success in determining genetic diagnosis for patients with inherited retinal diseases (IRDs), mutations in about 30% of the IRD cases remain unclear or unsettled after targeted gene panel or whole exome sequencing. In this study, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a2a510ea44ca1aa3db229beb79e4483
https://doi.org/10.1101/2023.01.02.522522
https://doi.org/10.1101/2023.01.02.522522
Publikováno v:
eLife, Vol 8 (2019)
eLife
eLife
The trafficking mechanisms and transcriptional targets downstream of long-range neurotrophic factor ligand/receptor signaling that promote axon growth are incompletely understood. Zebrafish carrying a null mutation in a neurotrophic factor receptor,
In many cases, axon growth and guidance are driven by pioneer axons, the first axons to grow in a particular region. Despite their dynamic pathfinding capabilities and developmental importance, there are very few pioneer neuron specific markers and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4e8b1cb20802b32705ace5d1946589c
Autor:
Molly, Marra, Maureen, Regan
Publikováno v:
Maryland medicine : MM : a publication of MEDCHI, the Maryland State Medical Society. 14(2)