Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Tomaz Gambin"'
Autor:
Vismaya Kondapalli, Evelyn Hinojosa, Owen A. Ross, Chuansheng Zhang, Jennifer E. Posey, Anusha Tejomurtula, Renqian Du, Amanda Stillwell, Isabel Alfradique-Dunham, Xianzhou Song, Tomaz Gambin, Weimin Bi, Emily Young, James R. Lupski, Shalini N. Jhangiani, Shen Gu, Haowei Du, Joseph Jankovic, Joshua M. Shulman, Donna M. Muzny, Laurie Robak, Chad A. Shaw, Bo Yuan, Z. Coban Akdemir
BackgroundParkinson’s disease (PD) is a genetically heterogeneous condition; both single nucleotide variants (SNVs) and copy number variants (CNVs) are important genetic risk factors. We examined the utility of combining exome sequencing and genome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b982729c7d652cfd85665ac11e346c
Autor:
Joy Jayaseelan, Shen Gu, Philip M. Boone, Heather A. Dickerson, Lisa C.A. D'Alessandro, Shalini N. Jhangiani, Richard A. Gibbs, Eric Boerwinkle, Huyen Dinh, Nancy J. Hall, James F. Martin, Alexander H. Li, Charles D. Fraser, Donna M. Muzny, Mahshid Azamian, Susan D. Fernbach, Tomaz Gambin, Jianhong Hu, Zeynep H. Coban-Akdemir, Harshavardhan Doddapaneni, Jeffrey A. Towbin, Bo Yuan, John W. Belmont, Daniel J. Penny, Annarita Nicosia, Seema R. Lalani, Neil A. Hanchard, Stephanie M. Ware, James R. Lupski, Keila N. Lopez, Ender Karaca
Publikováno v:
European journal of human genetics : EJHG. 27(4)
Aberrant left-right patterning in the developing human embryo can lead to a broad spectrum of congenital malformations. The causes of most laterality defects are not known, with variants in established genes accounting for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::223d530babeabc23f4819f822a741f8c
https://pubmed.ncbi.nlm.nih.gov/30622330
https://pubmed.ncbi.nlm.nih.gov/30622330
