Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Joy Tanaka"'
Autor:
Mythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, Avinash Dharmadhikari, Subit Barua, Winston Lee, Merry Z. C. Ruan, Megan Soucy, Sara Ragi, Joy Tanaka, Lorraine N. Clark, Ali B. Naini, Jun Liao, Mahesh Mansukhani, Stephen Tsang, Vaidehi Jobanputra
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort
Externí odkaz:
https://doaj.org/article/60c235675b5f4c62a81a925e0d5a5726
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 2560
Retinitis pigmentosa (RP) affects approximately 1 in 4000 individuals. It has many different genetic etiologies and therefore diagnosis can be challenging. Understanding the different testing methodologies is beneficial for clinicians and researchers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::57110ea9b4d3069c2f632d46c0fe0318
https://pubmed.ncbi.nlm.nih.gov/36481882
https://pubmed.ncbi.nlm.nih.gov/36481882
Publikováno v:
Methods in Molecular Biology ISBN: 9781071626504
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df04daabb8083cfd20d2af9353b30b25
https://doi.org/10.1007/978-1-0716-2651-1_4
https://doi.org/10.1007/978-1-0716-2651-1_4
Autor:
Heather E. Williams, Rebecca J. Leeman-Neill, Mahesh Mansukhani, Akemi Joy Tanaka, Vundavalli V. Murty, Craig R. Soderquist
Publikováno v:
Cancer Genetics. 244:23-24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa8e7bc336e0be69d029b7c243c767f5
https://doi.org/10.1016/j.cancergen.2020.04.066
https://doi.org/10.1016/j.cancergen.2020.04.066