Search Results - (Author, Cooperation:J. Deanfield)
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1S. Zaidi ; M. Choi ; H. Wakimoto ; L. Ma ; J. Jiang ; J. D. Overton ; A. Romano-Adesman ; R. D. Bjornson ; R. E. Breitbart ; K. K. Brown ; N. J. Carriero ; Y. H. Cheung ; J. Deanfield ; S. DePalma ; K. A. Fakhro ; J. Glessner ; H. Hakonarson ; M. J. Italia ; J. R. Kaltman ; J. Kaski ; R. Kim ; J. K. Kline ; T. Lee ; J. Leipzig ; A. Lopez ; S. M. Mane ; L. E. Mitchell ; J. W. Newburger ; M. Parfenov ; I. Pe'er ; G. Porter ; A. E. Roberts ; R. Sachidanandam ; S. J. Sanders ; H. S. Seiden ; M. W. State ; S. Subramanian ; I. R. Tikhonova ; W. Wang ; D. Warburton ; P. S. White ; I. A. Williams ; H. Zhao ; J. G. Seidman ; M. Brueckner ; W. K. Chung ; B. D. Gelb ; E. Goldmuntz ; C. E. Seidman ; R. P. Lifton
Nature Publishing Group (NPG)
Published 2013Staff ViewPublication Date: 2013-05-15Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Adult ; Case-Control Studies ; Child ; Chromatin/chemistry/metabolism ; DNA Mutational Analysis ; Enhancer Elements, Genetic/genetics ; Exome/genetics ; Female ; Genes, Developmental/genetics ; Heart Diseases/*congenital/*genetics/metabolism ; Histones/chemistry/*metabolism ; Humans ; Lysine/chemistry/metabolism ; Male ; Methylation ; Mutation ; Odds Ratio ; Promoter Regions, Genetic/geneticsPublished by: -
2De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesJ. Homsy ; S. Zaidi ; Y. Shen ; J. S. Ware ; K. E. Samocha ; K. J. Karczewski ; S. R. DePalma ; D. McKean ; H. Wakimoto ; J. Gorham ; S. C. Jin ; J. Deanfield ; A. Giardini ; G. A. Porter, Jr. ; R. Kim ; K. Bilguvar ; F. Lopez-Giraldez ; I. Tikhonova ; S. Mane ; A. Romano-Adesman ; H. Qi ; B. Vardarajan ; L. Ma ; M. Daly ; A. E. Roberts ; M. W. Russell ; S. Mital ; J. W. Newburger ; J. W. Gaynor ; R. E. Breitbart ; I. Iossifov ; M. Ronemus ; S. J. Sanders ; J. R. Kaltman ; J. G. Seidman ; M. Brueckner ; B. D. Gelb ; E. Goldmuntz ; R. P. Lifton ; C. E. Seidman ; W. K. Chung
American Association for the Advancement of Science (AAAS)
Published 2016Staff ViewPublication Date: 2016-01-20Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Brain/abnormalities/metabolism ; Child ; Congenital Abnormalities/genetics ; Exome/genetics ; Heart Defects, Congenital/*diagnosis/*genetics ; Humans ; Mutation ; Nervous System Malformations/*genetics ; Neurogenesis/*genetics ; Prognosis ; RNA Splicing/genetics ; RNA, Messenger/genetics ; RNA-Binding Proteins/genetics ; Repressor Proteins/genetics ; Transcription, GeneticPublished by: -
3Staff View
ISSN: 0022-2828Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002Topics: MedicineType of Medium: Electronic ResourceURL: -
4Staff View
ISSN: 1432-1076Keywords: Defective neutrophil mobility ; Delayed umbilical cord separation ; EndocarditisSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract We report the case of 5-week-old male infant who presented as a ‘near miss cot death’. He had the immunodeficient syndrome of defective neutrophil mobility and delayed umbilical cord separation. He was shown to have staphylococcal endocarditis with a large vegetation on the mitral valve, and acute obstruction of the mitral valve flow may have accounted for the suddenness of his presentation. Death resulted from overwhelming sepsis with widely disseminated micro-abscesses.Type of Medium: Electronic ResourceURL: -
5Selwyn, A. P. ; Shea, M. ; Deanfield, J. ; Wilson, R. ; DeLandsheere, C. ; Jones, T.
Springer
Published 1985Staff ViewISSN: 1573-0743Source: Springer Online Journal Archives 1860-2000Topics: MedicineType of Medium: Electronic ResourceURL: