Search Results - (Author, Cooperation:J. L. Silhavy)
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1J. H. Lee ; J. L. Silhavy ; J. E. Lee ; L. Al-Gazali ; S. Thomas ; E. E. Davis ; S. L. Bielas ; K. J. Hill ; M. Iannicelli ; F. Brancati ; S. B. Gabriel ; C. Russ ; C. V. Logan ; S. M. Sharif ; C. P. Bennett ; M. Abe ; F. Hildebrandt ; B. H. Diplas ; T. Attie-Bitach ; N. Katsanis ; A. Rajab ; R. Koul ; L. Sztriha ; E. R. Waters ; S. Ferro-Novick ; C. G. Woods ; C. A. Johnson ; E. M. Valente ; M. S. Zaki ; J. G. Gleeson
American Association for the Advancement of Science (AAAS)
Published 2012Staff ViewPublication Date: 2012-01-28Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Amino Acid Sequence ; Animals ; Cell Line ; Cerebellar Diseases/*genetics/metabolism/pathology ; Cilia/metabolism/*ultrastructure ; Conserved Sequence ; DNA, Intergenic ; *Evolution, Molecular ; Eye Abnormalities/*genetics/metabolism/pathology ; Gene Expression Profiling ; *Gene Expression Regulation ; Genetic Heterogeneity ; *Genetic Loci ; Humans ; Kidney Diseases, Cystic/*genetics/metabolism/pathology ; Membrane Proteins/chemistry/*genetics/metabolism ; Molecular Sequence Data ; Multigene Family ; Mutation ; Mutation, Missense ; Phenotype ; Protein Transport ; *Regulatory Sequences, Nucleic Acid ; Retina/abnormalities/metabolism/pathology ; Transport Vesicles/metabolism/ultrastructurePublished by: -
2G. Novarino ; A. G. Fenstermaker ; M. S. Zaki ; M. Hofree ; J. L. Silhavy ; A. D. Heiberg ; M. Abdellateef ; B. Rosti ; E. Scott ; L. Mansour ; A. Masri ; H. Kayserili ; J. Y. Al-Aama ; G. M. Abdel-Salam ; A. Karminejad ; M. Kara ; B. Kara ; B. Bozorgmehri ; T. Ben-Omran ; F. Mojahedi ; I. G. Mahmoud ; N. Bouslam ; A. Bouhouche ; A. Benomar ; S. Hanein ; L. Raymond ; S. Forlani ; M. Mascaro ; L. Selim ; N. Shehata ; N. Al-Allawi ; P. S. Bindu ; M. Azam ; M. Gunel ; A. Caglayan ; K. Bilguvar ; A. Tolun ; M. Y. Issa ; J. Schroth ; E. G. Spencer ; R. O. Rosti ; N. Akizu ; K. K. Vaux ; A. Johansen ; A. A. Koh ; H. Megahed ; A. Durr ; A. Brice ; G. Stevanin ; S. B. Gabriel ; T. Ideker ; J. G. Gleeson
American Association for the Advancement of Science (AAAS)
Published 2014Staff ViewPublication Date: 2014-02-01Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: Animals ; Axons/physiology ; Biological Transport/genetics ; Cohort Studies ; Exome/*genetics ; Gene Regulatory Networks ; *Genetic Association Studies ; Humans ; Motor Neuron Disease/*genetics ; Mutation ; Neurons/*metabolism ; Nucleotides/genetics/metabolism ; Pyramidal Tracts/*metabolism ; Sequence Analysis, DNA ; Spastic Paraplegia, Hereditary/*genetics ; Synapses/physiology ; Transcriptome ; ZebrafishPublished by: -
3G. Novarino ; P. El-Fishawy ; H. Kayserili ; N. A. Meguid ; E. M. Scott ; J. Schroth ; J. L. Silhavy ; M. Kara ; R. O. Khalil ; T. Ben-Omran ; A. G. Ercan-Sencicek ; A. F. Hashish ; S. J. Sanders ; A. R. Gupta ; H. S. Hashem ; D. Matern ; S. Gabriel ; L. Sweetman ; Y. Rahimi ; R. A. Harris ; M. W. State ; J. G. Gleeson
American Association for the Advancement of Science (AAAS)
Published 2012Staff ViewPublication Date: 2012-09-08Publisher: American Association for the Advancement of Science (AAAS)Print ISSN: 0036-8075Electronic ISSN: 1095-9203Topics: BiologyChemistry and PharmacologyComputer ScienceMedicineNatural Sciences in GeneralPhysicsKeywords: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/*administration & ; dosage/deficiency/*genetics ; Adolescent ; Amino Acids, Branched-Chain/administration & dosage/blood/deficiency ; Animals ; Arginine/genetics ; Autistic Disorder/*diet therapy/enzymology/*genetics ; Base Sequence ; Brain/metabolism ; Child ; Child, Preschool ; Diet ; Epilepsy/*diet therapy/enzymology/*genetics ; Female ; Homozygote ; Humans ; Intellectual Disability/diet therapy/enzymology/genetics ; Male ; Mice ; Mice, Knockout ; Molecular Sequence Data ; Mutation ; Pedigree ; Phosphorylation ; Protein Folding ; Protein Structure, Tertiary ; RNA, Messenger/metabolism ; Young AdultPublished by: