Výsledky vyhledávání - Art Grix
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1
Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations Autor William A. Paznekas, Michael L. Cunningham, Timothy D. Howard, Bruce R. Korf, Mark Lipson, Art Grix, Murray Feingold, Rosalie Goldberg, Zvi Borochowitz, Kirk Aleck, John B. Mulliken, Mingfei Yin, Ethylin Wang Jabs
Vydáno 1998Artigo -
2
CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy Autor Ghayda Mirzaa, Alex R. Paciorkowski, Eric D. Marsh, Elizabeth Berry‐Kravis, Līvija Medne, Art Grix, Elaine Wirrell, Berkley R. Powell, Katherine Nickels, Barbara K. Burton, Andrea Paras, Katherine Kim, Wendy K. Chung, William B. Dobyns, Soma Das
Vydáno 2013Artigo -
3
Genotypic and phenotypic analysis of 396 individuals with mutations in<i>Sonic Hedgehog</i> Autor Benjamin D. Solomon, Kelly Bear, Adrian Wyllie, Amelia A. Keaton, Christèle Dubourg, Véronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimée Paulussen, Nancy J. Clegg, Mauricio R. Delgado, Sherri J. Bale, Felicitas Lacbawan, Holly H Ardinger, Arthur S. Aylsworth, Ntombenhle Louisa Bhengu, Stephen R. Braddock, Karen Brookhyser, Barbara K. Burton, Harald Gaspar, Art Grix, Dafne Dain Gandelman Horovitz, Erin Kanetzke, Hülya Kayserili, Dorit Lev, Sarah M. Nikkel, Mary E. Norton, Richard M. Roberts, Howard M. Saal, G. Bradley Schaefer, Adele Schneider, E. Smith, Ellen Sowry, M. Anne Spence, Stavit A. Shalev, Carlos Eduardo Steiner, Elizabeth M. Thompson, Thomas Winder, Joan Z. Balog, Donald W. Hadley, Nan Zhou, Daniel Pineda‐Alvarez, Erich Roessler, Maximilian Muenke
Vydáno 2012Artigo -
4
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update Autor Lijia Huang, Megan R. Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Judith Allanson, Laura Baker, Tabib A. Dabir, Katrina M. Dipple, William B. Dobyns, Jane Estrella, Hanna Faghfoury, Francine Pinheiro Favaro, Himanshu Goel, Pernille Axél Gregersen, Karen W. Gripp, Art Grix, M. L. Guion‐Almeida, Margaret Harr, Cindy Hudson, Alasdair G. W. Hunter, John P. Johnson, Shelagh Joss, Amy Kimball, Usha Kini, Antonie D. Kline, Julie Lauzon, Dorte L. Lildballe, Vanesa López‐González, Johanna Martinezmoles, Cliff Meldrum, Ghayda Mirzaa, Chantal F. Morel, Jenny E.V. Morton, Louise C. Pyle, Fabiola Quintero‐Rivera, Julie Richer, Angela E. Scheuerle, Bitten Schönewolf‐Greulich, Deborah Shears, Josh Silver, Amanda Smith, I. Karen Temple, Jiddeke M. van de Kamp, Fleur S van Dijk, Anthony M. Vandersteen, Sue M. White, Elaine H. Zackai, Ruobing Zou, CareRare Canada Consortium, Dennis E. Bulman, Kym M. Boycott, Matthew A. Lines
Vydáno 2015Revisão
Vyhledávací nástroje:
Související témata
Medicine
Biology
Genetics
Disease
Gene
Internal medicine
Mutation
Phenotype
Age of onset
Area under the curve
Audiology
Carbidopa
Craniofacial
Endocrinology
Epilepsy
Fibroblast growth factor
Fibroblast growth factor receptor
Gastroenterology
Geometry
Global developmental delay
Haploinsufficiency
Hearing loss
Levodopa
Mathematics
Microcephaly
Missense mutation
Neuroscience
Parkinson's disease
Pediatrics
Pharmacokinetics