Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Nara L. M. Sobreira"'
Autor:
Lord J. J. Gowans, Noura Al Dhaheri, Mary Li, Tamara Busch, Solomon Obiri‐Yeboah, Alexander A. Oti, Daniel K. Sabbah, Fareed K. N. Arthur, Waheed O. Awotoye, Azeez A. Alade, Peter Twumasi, Pius Agbenorku, Gyikua Plange‐Rhule, Thirona Naicker, Peter Donkor, Jeffrey C. Murray, Nara L. M. Sobreira, Azeez Butali
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Abstract Background Orofacial clefts (OFCs) are congenital malformations of the face and palate, with an incidence of 1 per 700 live births. Clubfoot or congenital talipes equinovarus (CTEV) is a three‐dimensional abnormality of the leg, ankle, and
Externí odkaz:
https://doaj.org/article/8848cd2373e34c6380040a30238e66fa
Autor:
Sarah R. Poll, Renan Martin, Elizabeth Wohler, Elizabeth S. Partan, Elizabeth Walek, Shaima Salman, Daniel Groepper, Lisa Kratz, Mirlene Cernach, Reynaldo Jesus-Garcia, Chad Haldeman-Englert, Yoon Jae Choi, Carol D. Morris, Bernard Cohen, Julie Hoover-Fong, David Valle, Gregg L. Semenza, Nara L. M. Sobreira
Publikováno v:
PLoS genetics. 18(12)
Ollier disease (OD) and Maffucci Syndrome (MS) are rare disorders characterized by multiple enchondromas, commonly causing bone deformities, limb length discrepancies, and pathological fractures. MS is distinguished from OD by the development of vasc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d7a52be420ab3955127fdca9f3a6b6a
https://pubmed.ncbi.nlm.nih.gov/36480544
https://pubmed.ncbi.nlm.nih.gov/36480544
Autor:
Kimberly Pelak, Kevin V Shianna, Dongliang Ge, Jessica M Maia, Mingfu Zhu, Jason P Smith, Elizabeth T Cirulli, Jacques Fellay, Samuel P Dickson, Curtis E Gumbs, Erin L Heinzen, Anna C Need, Elizabeth K Ruzzo, Abanish Singh, C Ryan Campbell, Linda K Hong, Katharina A Lornsen, Alexander M McKenzie, Nara L M Sobreira, Julie E Hoover-Fong, Joshua D Milner, Ruth Ottman, Barton F Haynes, James J Goedert, David B Goldstein
Publikováno v:
PLoS Genetics, Vol 6, Iss 9, p e1001111 (2010)
We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals with severe hemophilia A
Externí odkaz:
https://doaj.org/article/11d35ff706624861ad364c3bc6c9cd73
Autor:
Nara L M Sobreira, Elizabeth T Cirulli, Dimitrios Avramopoulos, Elizabeth Wohler, Gretchen L Oswald, Eric L Stevens, Dongliang Ge, Kevin V Shianna, Jason P Smith, Jessica M Maia, Curtis E Gumbs, Jonathan Pevsner, George Thomas, David Valle, Julie E Hoover-Fong, David B Goldstein
Publikováno v:
PLoS Genetics, Vol 6, Iss 6, p e1000991 (2010)
Although more than 2,400 genes have been shown to contain variants that cause Mendelian disease, there are still several thousand such diseases yet to be molecularly defined. The ability of new whole-genome sequencing technologies to rapidly indentif
Externí odkaz:
https://doaj.org/article/f6de353cf3e240a6bc708768cf380973