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المؤلفون: Juan-Francisco Galán-Herrera, John H. Beigel, Sally Hunsberger, Wenjuan Gu, Joe-Ann S Moser, Arturo Galindo-Fraga, Ana A Ortiz-Hernández, Maria de Lourdes Guerrero, Guillermo M. Ruiz-Palacios
المصدر: Influenza and Other Respiratory Viruses
مصطلحات موضوعية: 0301 basic medicine, Male, obesity, Epidemiology, Overweight, medicine.disease_cause, hospital burden of disease, Cohort Studies, 0302 clinical medicine, Risk Factors, Nasopharynx, Outpatients, 030212 general & internal medicine, Child, Respiratory Tract Infections, virus diseases, Middle Aged, Obesity, Morbid, Hospitalization, Infectious Diseases, Child, Preschool, Cohort, Respiratory virus, Original Article, Female, Underweight, medicine.symptom, Rhinovirus, influenza, Pulmonary and Respiratory Medicine, Adult, medicine.medical_specialty, 030106 microbiology, body mass index, 03 medical and health sciences, respiratory viral pathogens, Thinness, Internal medicine, Influenza, Human, medicine, Humans, Aged, business.industry, Public Health, Environmental and Occupational Health, Infant, Original Articles, medicine.disease, Obesity, Observational study, business, Body mass index
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce2a69b64251c8fdf3ad04f5091c1180Test
http://europepmc.org/articles/PMC6304312Test -
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المؤلفون: David W. Christianson, Christine M. Bowman, Matthew A. Deardorff, Christophe Decroos, Joe-Ann S. Moser, Karen E. Christianson
المصدر: ACS Chemical Biology
مصطلحات موضوعية: Cornelia de Lange Syndrome, Cohesin complex, Protein Conformation, Mutant, Biology, SMC1A, Crystallography, X-Ray, medicine.disease_cause, 01 natural sciences, Biochemistry, Catalysis, Histone Deacetylases, Structure-Activity Relationship, 03 medical and health sciences, Catalytic Domain, De Lange Syndrome, medicine, Humans, Missense mutation, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Cohesin, Protein Stability, 010405 organic chemistry, NIPBL, Articles, General Medicine, Phenylthiourea, medicine.disease, 3. Good health, 0104 chemical sciences, Histone Deacetylase Inhibitors, Repressor Proteins, Benzamides, Molecular Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c67e31bc4995ec2955eea0148bea1a6fTest
https://doi.org/10.1021/cb5003762Test -
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المؤلفون: María Concepción Gil-Rodríguez, Angela E. Scheuerle, Kathleen A. Leppig, Hane Lee, Miguel Del Campo, Peter Diakumis, Katsuhiko Shirahige, Encarna Guillén-Navarro, Juliane Eckhold, Sally Ann Lynch, Holly Dubbs, A. Micheil Innes, Joe Ann S. Moser, Sulagna C. Saitta, Naohito Nozaki, Fabiola Quintero-Rivera, Helger G. Yntema, Antonie D. Kline, Antonio Perez-Aytes, Dinah Clark, Patrick Willems, Lynette S. Penney, Bryan D. Hall, David A. Dyment, Samuel P. Strom, Matthew A. Deardorff, Maninder Kaur, Kathleen A. Williamson, Diana Braunholz, Ieva Micule, Jennifer M. Hunter, Jose Ferreira, Laird G. Jackson, Sarah Ernst, Paldeep S. Atwal, Raoul C.M. Hennekam, Shane McKee, Sarju G. Mehta, David R. FitzPatrick, Sarah E. Noon, David J. Amor, Yolanda Gyftodimou, David W. Christianson, Louanne Hudgins, Christopher T. Fincher, Melanie Hullings, Inga Vater, Victoria Mok Siu, Feliciano J. Ramos, Michael B. Petersen, Christophe Decroos, Antonio Musio, Morad Ansari, Elizabeth Roeder, Nicole Revencu, Heidi Thiese, Shehla Mohammed, Beatriz Puisac, Louise C. Wilson, John Pappas, Lauren J. Francey, Zita Krumina, Zornitza Stark, Karen L. Schindeler, Juan Pié, Ellen Moran, Jolanta Wierzba, Nataliya Di Donato, Hakon Hakonarson, Frank J. Kaiser, Gabriele Gillessen-Kaesbach, Geert Mortier, Han G. Brunner, Linda Mannini, Melanie Bahlo, Jonathan J. Wilde, Masashige Bando, Jacquelyn J. Bradley, Mark B. Mallozzi, Ulrike Gehlken, Christine M. Bowman, Luis Nunes, Ian D. Krantz
المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Human Genetics, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, CareRare Canada Consortium, University of Washington Center for Mendelian Genomics
المصدر: Kaiser, F J, Ansari, M, Braunholz, D, Concepción Gil-Rodríguez, M, Decroos, C, Wilde, J J, Fincher, C T, Kaur, M, Bando, M, Amor, D J, Atwal, P S, Bahlo, M, Bowman, C M, Bradley, J J, Brunner, H G, Clark, D, Del Campo, M, Di Donato, N, Diakumis, P, Dubbs, H, Dyment, D A, Eckhold, J, Ernst, S, Ferreira, J C, Francey, L J, Gehlken, U, Guillén-Navarro, E, Gyftodimou, Y, Hall, B D, Hennekam, R, Hudgins, L, Hullings, M, Hunter, J M, Yntema, H, Innes, A M, Kline, A D, Krumina, Z, Lee, H, Leppig, K, Lynch, S A, Mallozzi, M B, Mannini, L, McKee, S, Mehta, S G, Micule, I, Mohammed, S, Moran, E, Mortier, G R, Moser, J-A S, Petersen, M B & Care4Rare Canada Consortium 2014, ' Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance ', Human Molecular Genetics, vol. 23, no. 11, pp. 2888-2900 . https://doi.org/10.1093/hmg/ddu002Test
Human molecular genetics, 23(11), 2888-2900. Oxford University Press
Human molecular genetics, vol 23, iss 11
Human Molecular Genetics, 23, 11, pp. 2888-900
Human Molecular Genetics, 23, 2888-900
HUMAN MOLECULAR GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human Molecular Genetics, Vol. 23, no. 11, p. 2888-2900 (2014)
Human molecular geneticsمصطلحات موضوعية: Male, Care4Rare Canada Consortium, medicine.disease_cause, Bioinformatics, Medical and Health Sciences, Cohort Studies, Congenital, Genes, X-Linked, De Lange Syndrome, 2.1 Biological and endogenous factors, Missense mutation, Eye Abnormalities, Aetiology, Hypertelorism, Child, Genetics (clinical), X-linked recessive inheritance, Pediatric, Genetics & Heredity, Genetics, screening and diagnosis, Mutation, Genetic disorder, Articles, General Medicine, Biological Sciences, Chemistry, Detection, Phenotype, Child, Preschool, Female, medicine.symptom, Cornelia de Lange Syndrome, Cohesin complex, Intellectual and Developmental Disabilities (IDD), Molecular Sequence Data, Cranial Fontanelles, Mutation, Missense, Biology, Histone Deacetylases, Rare Diseases, medicine, Humans, Amino Acid Sequence, Dental/Oral and Craniofacial Disease, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], University of Washington Center for Mendelian Genomics, Preschool, Molecular Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Infant, NIPBL, X-Linked, medicine.disease, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, Repressor Proteins, Genes, Human medicine, Missense, Sequence Alignment
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5b1ff2bb16729d8da56fa773419cfeTest
https://doi.org/10.1093/hmg/ddu002Test -
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المؤلفون: Joe-Ann S. Moser, Edward L. D'Antonio, Alexander Genshaft, Christine M. Bowman, David W. Christianson
المصدر: Proteins. 81(6)
مصطلحات موضوعية: Models, Molecular, Stereochemistry, Protein Conformation, Protein Data Bank (RCSB PDB), Molecular Conformation, Biochemistry, Article, chemistry.chemical_compound, Protein structure, Isomerism, Structural Biology, Side chain, Databases, Protein, Molecular Biology, Nuclear Magnetic Resonance, Biomolecular, Chemistry, Lysine, Proteins, computer.file_format, Protein Data Bank, Small molecule, Amides, Protein tertiary structure, Acetyllysine, Thermodynamics, Protein crystallization, computer
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49508f340a180bce08ae7fe682bb5571Test
https://pubmed.ncbi.nlm.nih.gov/23401043Test -
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المؤلفون: Joe‐Ann S Moser, Xuefei Liu, Kaushik P. Patel, Hong Zheng
المصدر: The FASEB Journal. 23
مصطلحات موضوعية: Mechanism (biology), Gene transfer, Pharmacology, medicine.disease, Biochemistry, Nitric oxide, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Heart failure, Angiotensin-converting enzyme 2, Genetics, medicine, Molecular Biology, Nucleus, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bedb8eeef5f83af8121d71a946ed83f5Test
https://doi.org/10.1096/fasebj.23.1_supplement.956.2Test