Search Results - (Author, Cooperation:H. C. Mefford)
-
1B. J. O'Roak ; L. Vives ; W. Fu ; J. D. Egertson ; I. B. Stanaway ; I. G. Phelps ; G. Carvill ; A. Kumar ; C. Lee ; K. Ankenman ; J. Munson ; J. B. Hiatt ; E. H. Turner ; R. Levy ; D. R. O'Day ; N. Krumm ; B. P. Coe ; B. K. Martin ; E. Borenstein ; D. A. Nickerson ; H. C. Mefford ; D. Doherty ; J. M. Akey ; R. Bernier ; E. E. Eichler ; J. Shendure
American Association for the Advancement of Science (AAAS)
Published 2012Staff ViewPublication Date: 2012-11-20Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Cephalometry ; Child ; Child Development Disorders, Pervasive/*genetics ; Child, Preschool ; Chromatin Assembly and Disassembly ; Cohort Studies ; DNA Probes ; DNA-Binding Proteins/genetics ; Exome ; Female ; *Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Megalencephaly/genetics ; Microcephaly/genetics ; *Mutation ; Nuclear Proteins/genetics ; PTEN Phosphohydrolase/genetics ; Protein-Serine-Threonine Kinases/genetics ; Protein-Tyrosine Kinases/genetics ; Receptors, Cytoplasmic and Nuclear/genetics ; Receptors, N-Methyl-D-Aspartate/genetics ; Repressor Proteins/genetics ; Sequence Analysis, DNA/*methods ; T-Box Domain Proteins/genetics ; Transcription Factors/genetics ; beta Catenin/genetics/metabolismPublished by: -
2A. S. Allen ; S. F. Berkovic ; P. Cossette ; N. Delanty ; D. Dlugos ; E. E. Eichler ; M. P. Epstein ; T. Glauser ; D. B. Goldstein ; Y. Han ; E. L. Heinzen ; Y. Hitomi ; K. B. Howell ; M. R. Johnson ; R. Kuzniecky ; D. H. Lowenstein ; Y. F. Lu ; M. R. Madou ; A. G. Marson ; H. C. Mefford ; S. Esmaeeli Nieh ; T. J. O'Brien ; R. Ottman ; S. Petrovski ; A. Poduri ; E. K. Ruzzo ; I. E. Scheffer ; E. H. Sherr ; C. J. Yuskaitis ; B. Abou-Khalil ; B. K. Alldredge ; J. F. Bautista ; A. Boro ; G. D. Cascino ; D. Consalvo ; P. Crumrine ; O. Devinsky ; M. Fiol ; N. B. Fountain ; J. French ; D. Friedman ; E. B. Geller ; S. Glynn ; S. R. Haut ; J. Hayward ; S. L. Helmers ; S. Joshi ; A. Kanner ; H. E. Kirsch ; R. C. Knowlton ; E. H. Kossoff ; R. Kuperman ; S. M. McGuire ; P. V. Motika ; E. J. Novotny ; J. M. Paolicchi ; J. M. Parent ; K. Park ; R. A. Shellhaas ; J. J. Shih ; R. Singh ; J. Sirven ; M. C. Smith ; J. Sullivan ; L. Lin Thio ; A. Venkat ; E. P. Vining ; G. K. Von Allmen ; J. L. Weisenberg ; P. Widdess-Walsh ; M. R. Winawer
Nature Publishing Group (NPG)
Published 2013Staff ViewPublication Date: 2013-08-13Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Child Development Disorders, Pervasive ; Cohort Studies ; Exome/genetics ; Female ; Fragile X Mental Retardation Protein/metabolism ; Genetic Predisposition to Disease/genetics ; Humans ; Infant ; Intellectual Disability/*genetics/physiopathology ; Lennox Gastaut Syndrome ; Male ; Mutation/*genetics ; Mutation Rate ; N-Acetylglucosaminyltransferases/genetics ; Probability ; Receptors, GABA-A/genetics ; Spasms, Infantile/*genetics/physiopathologyPublished by: