Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Deborah K. Schelling"'
Publikováno v:
The American Journal of Human Genetics. 77:741-753
Mutations in the low-density lipoprotein receptor–related protein 5 gene (LRP5) cause autosomal recessive osteoporosis-pseudoglioma syndrome (OPPG). We sequenced the coding exons of LRP5 in 37 probands suspected of having OPPG on the basis of the c
Autor:
Yajun Cui, Matthew L. Warman, Raphaela Goldbach-Mansky, Ronald M. Laxer, David K. Rhee, Deborah K. Schelling, Sulaiman M. Al-Mayouf, Jose Marcelino, Cynthia F. Bartels
Publikováno v:
Journal of Biological Chemistry. 280:31325-31332
Lubricin, a protein product of the gene PRG4, is a secreted mucin-like proteoglycan that is a major lubricant in articulating joints. Mutations in PRG4 cause the autosomal recessive, human disorder camptodactyly-arthropathy-coxa vara-pericarditis syn
Autor:
Cong Tian, Fengchan Han, Ye Zheng, Heping Yu, Bin Yang, Cynthia F. Bartels, Peter C. Scacheri, Deborah K. Schelling, Qing Yin Zheng, James E. Arnold
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e34944 (2012)
PLoS ONE
PLoS ONE
Otitis media is a middle ear disease common in children under three years old. Otitis media can occur in normal individuals with no other symptoms or syndromes, but it is often seen in individuals clinically diagnosed with genetic diseases such as CH
Autor:
Mark P. Gorman, Yanick J. Crow, Angeliki Skardoutsou, Christian Dohna-Schwake, Padraic Grattan-Smith, G Dueckers, Anne Marie Childs, Elysa J. Marco, Artemis D. Gika, David A. Hafler, Robert M. Eiben, Julie Perrier, Eduardo Lopez-Laso, Karrie Goglin, Caitlin M D Orr, Maja Di Rocco, Antonia Clarke, Jane E. Anderson, Deborah K. Schelling, Dimitris Gionnis, Cristin Aubin, Mark Raymond Adams, Alexander G. Bassuk, Peter Uldall, Derek E. Neilson, Annette Hackenberg, David L. Tefft, Douglas S. Kerr, Sotiria Mastroyianni, Marjo S. van der Knaap, Markus G. Lentschig, Matthew L. Warman, Ann M. E. Bye, Serenella Servidei, Alice Kuster, Philip L. De Jager, Alfonso Fasano, Thomas Schmitt-Mechelke
Publikováno v:
Neilson, D E, Adams, M D, Orr, C M D, Schelling, D K, Eiben, R M, Kerr, D S, Anderson, J, Bassuk, A G, Bye, A M, Childs, A M, Clarke, A, Crow, Y J, Di Rocco, M, Dohna-Schwake, C, Dueckers, G, Fasano, A E, Gika, A D, Gionnis, D, Gorman, M P, Grattan-Smith, P J, Hackenberg, A, Kuster, A, Lentschig, M G, Lopez-Laso, E, Marco, E J, Mastroyianni, S, Perrier, J, Schmitt-Mechelke, T, Servidei, S, Skardoutsou, A, Uldall, P, van der Knaap, M S, Goglin, K C, Tefft, D L, Aubin, C, de Jager, P, Hafler, D & Warman, M L 2009, ' Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2 ', American journal of human genetics, vol. 84, no. 1, pp. 44-51 . https://doi.org/10.1016/j.ajhg.2008.12.009
American journal of human genetics, 84(1), 44-51. Cell Press
American journal of human genetics, 84(1), 44-51. Cell Press
Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur in otherwise healthy children after common viral infections such as influenza and parainfluenza. Most ANE is sporadic and nonrecurrent (isolated ANE). Howev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e80c699968fa64351ceffee6ee23c23
http://hdl.handle.net/10807/15157
http://hdl.handle.net/10807/15157