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المؤلفون: Muhammad Ali Khan, Edward Lebovics, Lavneet Chawla, Raja Chandra Chakinala, Zahava C. Farkas, Shantanu Solanki, Khwaja F. Haq, Priyanka Chugh, Taliya Farooq, Jacquelyn J. Bradley
المصدر: American Journal of Gastroenterology. 112:S1398-S1400
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Hepatology, business.industry, Signet ring cell carcinoma, Gastroenterology, Medicine, business, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::34c4bf71f6a853d3109f5a3cda327b0dTest
https://doi.org/10.14309/00000434-201710001-02562Test -
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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: Jacquelyn J. Bradley, Yasmin Yusuf, Priyanka Chugh, Roxana Bodin
المصدر: American Journal of Gastroenterology. 112:S1222-S1223
مصطلحات موضوعية: Adenosine deaminase, Hepatology, biology, business.industry, Ascites, Gastroenterology, biology.protein, Cancer research, Medicine, Myeloid leukemia, medicine.symptom, business, New onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::571e402185dfd42179662a2f468b4020Test
https://doi.org/10.14309/00000434-201710001-02226Test -
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المؤلفون: Muhammad Ali Khan, Taliya Farooq, Zahava C. Farkas, Jacquelyn J. Bradley, Khwaja F. Haq, Shantanu Solanki, Raja Chandra Chakinala, Dhruv Mehta, Jonathan E. Barsa, Edward Lebovics
المصدر: American Journal of Gastroenterology. 112:S863-S864
مصطلحات موضوعية: medicine.medical_specialty, Cryptitis, Hepatology, business.industry, Gastroenterology, Screening colonoscopy, medicine.disease, Strongyloidiasis, Internal medicine, medicine, Eosinophilia, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::78412e4a3b8e913cf2faacf2a2d98be8Test
https://doi.org/10.14309/00000434-201710001-01584Test -
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المؤلفون: Jacquelyn J. Bradley, Christian Salib, Vipin Mittal, Fouzia Shakil
المصدر: American Journal of Gastroenterology. 112:S804
مصطلحات موضوعية: medicine.medical_specialty, Chemotherapy, Hepatology, Bortezomib, business.industry, medicine.medical_treatment, Gastroenterology, Sigmoid colon, medicine.disease, Surgery, medicine.anatomical_structure, Stercoral perforation, medicine, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4dbe2503d9d210e1f3572395c99d492cTest
https://doi.org/10.14309/00000434-201710001-01471Test -
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المؤلفون: Xiangyue Wu, Frances M. Gratacós, Christopher D. Krause, Jacquelyn J. Bradley, Kristina Hernandez, Amber G. Jensen, Gary Brewer, Sidney Pestka, Anna M. Knapinska
مصطلحات موضوعية: endocrine system, Proteasome Endopeptidase Complex, animal structures, Cell Survival, p38 mitogen-activated protein kinases, RNA Stability, Interleukin-1beta, HSP27 Heat-Shock Proteins, Biology, Regulatory Sequences, Ribonucleic Acid, Cell Line, P-bodies, Fluorescence Resonance Energy Transfer, Humans, Immunoprecipitation, Heterogeneous Nuclear Ribonucleoprotein D0, Heterogeneous-Nuclear Ribonucleoprotein D, Phosphorylation, Molecular Biology, Heat-Shock Proteins, AU-rich element, Tumor Necrosis Factor-alpha, Cell Biology, MRNA stabilization, Articles, Cell biology, Kinetics, Biochemistry, Proteasome, Amino Acid Substitution, Mitogen-activated protein kinase, Chaperone (protein), biology.protein, Mutant Proteins, Protein Processing, Post-Translational, Molecular Chaperones, Protein Binding, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::428dcaca0efdbcaeed25bd83e1511522Test
https://europepmc.org/articles/PMC3135302Test/