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1Academic Journal
المؤلفون: Iris Cohn, Tara A. Paton, Christian R. Marshall, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Nasim Monfared, Robin Z. Hayeems, M. Stephen Meyn, Sarah Bowdin, Stephen W. Scherer, Ronald D. Cohn, Shinya Ito
المصدر: npj Genomic Medicine, Vol 2, Iss 1, Pp 1-8 (2017)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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2Academic Journal
المؤلفون: Steven V Molinski, Saumel Ahmadi, Wan Ip, Hong Ouyang, Adriana Villella, John P Miller, Po‐Shun Lee, Kethika Kulleperuma, Kai Du, Michelle Di Paola, Paul DW Eckford, Onofrio Laselva, Ling Jun Huan, Leigh Wellhauser, Ellen Li, Peter N Ray, Régis Pomès, Theo J Moraes, Tanja Gonska, Felix Ratjen, Christine E Bear
المصدر: EMBO Molecular Medicine, Vol 9, Iss 9, Pp 1224-1243 (2017)
مصطلحات موضوعية: amplifier, c.3700 A>G, CFTR, CRISPR/Cas9, cystic fibrosis, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Ashutosh K. Pandey, Graeme A. M. Nimmo, Jessie M. Cameron, Peter N. Ray, Carolyn K. Suzuki, Kamalendra Singh, Lili-Naz Hazrati, Susan Blaser, Sundararajan Venkatesh, Sohnee Ahmed, Grace Yoon, Christian R. Marshall
المصدر: Human Molecular Genetics. 28:290-306
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Oxidative phosphorylation, Biology, Mitochondrion, DNA, Mitochondrial, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, ATP-Dependent Proteases, Cerebellar Diseases, Internal medicine, Genetics, medicine, Humans, Phosphorylation, Pyruvate Dehydrogenase Complex Deficiency Disease, Molecular Biology, Alleles, Genetics (clinical), Homozygote, Neurodegeneration, Infant, Newborn, Neurodegenerative Diseases, General Medicine, medicine.disease, Pyruvate dehydrogenase complex, Pedigree, Pyruvate dehydrogenase deficiency, Protein Subunits, 030104 developmental biology, Endocrinology, Mutation, Proteolysis, Lactates, 030221 ophthalmology & optometry, Cerebellar atrophy, General Article
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المؤلفون: Ronald D. Cohn, Michal Inbar-Feigenberg, Christoph Licht, Sarah Bowdin, Dimitri J. Stavropoulos, Rosanna Weksberg, Gregory Costain, Sharon D. Dell, Cheryl Shuman, Wilson W L Sung, Rebekah Jobling, Ronald M. Laxer, Regan Klatt, Giovanna Pellecchia, Stacy Hewson, Zhuozhi Wang, Cyrus Boelman, Saadet Mercimek-Andrews, Anath C. Lionel, Roberto Mendoza-Londono, M. Stephen Meyn, Linda T. Hiraki, Rayfel Schneider, Nasim Monfared, Robin Z. Hayeems, Susan Walker, Christian R. Marshall, Komudi Siriwardena, Jonathan B. Kronick, Melissa T. Carter, Jonathan D. Wasserman, Priya Dhir, Neal Sondheimer, Stephen W. Scherer, Peter N. Ray, Thomas Nalpathamkalam, Dawn Cordeiro, Earl D. Silverman, Michael J. Szego, S. Mohsen Hosseini, Elise Heon, Ajoy Vincent, Andreas Schulze, James J. Dowling, Bhooma Thiruvahindrapuram, Peter Bikangaga, Joanne Sutherland, Heather MacDonald, Cheryl Cytrynbaum, Daniele Merico, Raveen K. Basran, Tino D. Piscione, O. Carter Snead, Miriam S. Reuter, Chris Carew
المصدر: Genetics in Medicine
مصطلحات موضوعية: Male, 0301 basic medicine, DNA Copy Number Variations, Sequence analysis, Bioinformatics, DNA sequencing, 03 medical and health sciences, Exome Sequencing, Genetic variation, diagnostics, medicine, Humans, Exome, Genetic Predisposition to Disease, Original Research Article, Genetic Testing, Copy-number variation, Genetic Association Studies, Genetics (clinical), Exome sequencing, Genetic testing, Whole genome sequencing, Whole Genome Sequencing, medicine.diagnostic_test, business.industry, copy number variation, Genetic Diseases, Inborn, noncoding, Computational Biology, Genetic Variation, Molecular Sequence Annotation, Sequence Analysis, DNA, 3. Good health, Phenotype, 030104 developmental biology, whole-genome sequencing, next-generation sequencing, Female, business
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13Academic Journal
المؤلفون: Timothy Caulfield, Amy L McGuire, Mildred Cho, Janet A Buchanan, Michael M Burgess, Ursula Danilczyk, Christina M Diaz, Kelly Fryer-Edwards, Shane K Green, Marc A Hodosh, Eric T Juengst, Jane Kaye, Laurence Kedes, Bartha Maria Knoppers, Trudo Lemmens, Eric M Meslin, Juli Murphy, Robert L Nussbaum, Margaret Otlowski, Daryl Pullman, Peter N Ray, Jeremy Sugarman, Michael Timmons
المصدر: PLoS Biology, Vol 6, Iss 3, p e73 (2008)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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14Academic Journal
المؤلفون: Timothy Caulfield, Amy L. Mcguire, Mildred Cho, Janet A. Buchanan, Michael M. Burgess, Ursula Danilczyk, Christina M. Diaz, Kelly Fryer-edwards, Shane K. Green, Marc A. Hodosh, Eric T. Juengst, Jane Kaye, Laurence Kedes, Trudo Lemmens, Eric M. Meslin, Juli Murphy, Robert L. Nussbaum, Margaret Otlowski, Daryl Pullman, Peter N. Ray, Jeremy Sugarman, Michael Timmons
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/17/26/PLoS_Biol_2008_Mar_25_6(3)_e73.tar.gz
وصف الملف: application/zip
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المؤلفون: Wilson W L Sung, S. Mohsen Hosseini, Brett Trost, Stephen W. Scherer, John Wei, James Ellis, Jeffrey R. MacDonald, Sarah Bowdin, Janet A. Buchanan, M. Stephen Meyn, Miriam S. Reuter, Rohan V. Patel, Giovanna Pellecchia, Allison Hazell, Ryan A. Cook, Sergio L. Pereira, Bhooma Thiruvahindrapuram, Jennifer L. Howe, Iris Cohn, Lisa J. Strug, Ryan K. C. Yuen, Peter Pasceri, Yvonne Bombard, Joe Whitney, Hin C. Lee, Tara Paton, Anne S. Bassett, Rosanna Weksberg, Jill Davies, Barbara Kellam, Dimitri J. Stavropoulos, Wei Wei, Christian R. Marshall, Cheryl Shuman, Marc Fiume, Fred W. Keeley, Richard F. Wintle, Matthew R. Hildebrandt, Jo Anne Herbrick, Zhuozhi Wang, Peter N. Ray, Thomas Nalpathamkalam, Ronald D. Cohn, Sherilyn L. Bell, Neal Sondheimer, Daniele Merico, Susan Walker, Ann M. Joseph-George, Melanie M. Mahtani, Asli Romm, Chao Lu, Michael J. Szego, Nasim Monfared
المصدر: Canadian Medical Association Journal. 190:E126-E136
مصطلحات موضوعية: Male, 0301 basic medicine, Genetics, Whole genome sequencing, Canada, Whole Genome Sequencing, Genome, Human, Genetic Variation, Genes, Recessive, Sequence Analysis, DNA, General Medicine, Biology, Genome, Personal Genome Project, 03 medical and health sciences, 030104 developmental biology, Genotype, Genetic variation, Humans, Female, Genetic Predisposition to Disease, Human genome, Letters, Copy-number variation, Allele
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المؤلفون: J.P. Miller, Ling Jun Huan, Saumel Ahmadi, Felix Ratjen, Régis Pomès, Paul D. W. Eckford, Hong Ouyang, Leigh Wellhauser, Christine E. Bear, Adriana Villella, Ellen Li, Theo J. Moraes, Kethika Kulleperuma, Peter N. Ray, Michelle Di Paola, Onofrio Laselva, Steven Molinski, Wan Ip, Po-Shun Lee, Tanja Gonska, Kai Du
المصدر: EMBO Molecular Medicine
مصطلحات موضوعية: 0301 basic medicine, Combination therapy, Cystic Fibrosis, In silico, Respiratory System, Aminopyridines, Cystic Fibrosis Transmembrane Conductance Regulator, Biology, Quinolones, Bioinformatics, medicine.disease_cause, Aminophenols, Cystic fibrosis, Ivacaftor, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, CRISPR, Humans, Point Mutation, Benzodioxoles, CFTR, ΔF508, CRISPR/Cas9, Research Articles, c.3700 A>G, Gene Editing, Mutation, Lumacaftor, Genetic Therapy, medicine.disease, Combined Modality Therapy, 3. Good health, Drug Combinations, 030104 developmental biology, chemistry, 030220 oncology & carcinogenesis, amplifier, Cancer research, Molecular Medicine, Genetics, Gene Therapy & Genetic Disease, medicine.drug, Research Article
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المؤلفون: Maryam Al-Murshed, Peter N. Ray, Lili-Naz Hazrati, Hernan Gonorazky, Grace Yoon, Roope Männikkö, Christian R. Marshall, Michael G. Thor, Michael G. Hanna
المصدر: Neuromuscular Disorders. 27:574-580
مصطلحات موضوعية: Adult, 0301 basic medicine, Pathology, medicine.medical_specialty, Proximal muscle weakness, Adolescent, Myotonia Congenita, Genes, Recessive, Craniosynostoses, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Atrophy, medicine, Humans, Exome, NAV1.4 Voltage-Gated Sodium Channel, Centronuclear myopathy, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, business.industry, Facial weakness, Anatomy, medicine.disease, Congenital myopathy, Muscle atrophy, Pedigree, Muscular Atrophy, HEK293 Cells, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Muscle contraction
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18Academic Journal
المؤلفون: Perry L. Howard, Ghassan Y. Dally, Melanie H. Wong, Alex Ho, Richard G. Weleber, De-ann M. Pillers, Peter N. Ray
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.318.4497; http://hmg.oxfordjournals.org/content/7/9/1385.full.pdf
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المؤلفون: Christian A. Hübner, Anna Sulek, Ute Hehr, Ewelina Elert-Dobkowska, Yorck Hellenbroich, Sven Günther, Anne S. Soehn, Sophie Hinreiner, Peter Bauer, Grace Yoon, Christian Beetz, Peter N. Ray, Raoul Heller
المصدر: Human Mutation. 37:703-709
مصطلحات موضوعية: 0301 basic medicine, Genetics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mutational hotspot, Mutation (genetic algorithm), Biology, Allele, 030217 neurology & neurosurgery, Genetics (clinical)
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المؤلفون: Anne Kawamura, Rudaina Banihani, Jeff Kobayashi, Grace Yoon, Berivan Baskin, William Halliday, Peter N. Ray, Laura McAdam
المصدر: Journal of Developmental & Behavioral Pediatrics. 37:239-244
مصطلحات موضوعية: Male, musculoskeletal diseases, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Duchenne muscular dystrophy, macromolecular substances, 030105 genetics & heredity, Dystrophin, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Developmental and Educational Psychology, medicine, Humans, Muscular dystrophy, Psychiatry, biology, Wechsler Adult Intelligence Scale, medicine.disease, Muscular Dystrophy, Duchenne, Psychiatry and Mental health, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), biology.protein, Psychology, Novel mutation, 030217 neurology & neurosurgery
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