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1دورية أكاديمية
المؤلفون: Martins, Esmeralda, Oussoren, Esmeralda, Hennermann, Julia, Chabrol, Brigitte, Grant, Christina, Sun, Angela, Durand, Consuelo, Hetzer, Joel, Malkus, Betsy, Marsden, Deborah, Merritt Ii, J, Giugliani, Roberto, Gonzalez-Meneses, Antonio, Scarpa, Maurizio, Burton, Barbara, Wang, Raymond
المصدر: Orphanet Journal of Rare Diseases. 19(1)
مصطلحات موضوعية: Lysosomal storage disease, MPS VII, Mucopolysaccharidosis VII, Non-immune hydrops fetalis, β-glucuronidase deficiency, Humans, Mucopolysaccharidosis VII, Glucuronidase, Male, Child, Preschool, Female, Child, Enzyme Replacement Therapy, Recombinant Proteins, Infant, Longitudinal Studies, Adolescent
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8np717v2
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2دورية أكاديمية
المؤلفون: Giugliani, RobertoAff1, IDs1302302403176z_cor1, Gonzalez-Meneses, Antonio, Scarpa, Maurizio, Burton, Barbara, Wang, Raymond, Martins, Esmeralda, Oussoren, Esmeralda, Hennermann, Julia B., Chabrol, Brigitte, Grant, Christina L., Sun, Angela, Durand, Consuelo, Hetzer, Joel, Malkus, Betsy, Marsden, Deborah, Merritt II, J. Lawrence
المصدر: Orphanet Journal of Rare Diseases. 19(1)
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3دورية أكاديمية
المؤلفون: Malkus, Betsy C., Cohen, Jeanne M., Grant, Christina L., Scarpa, Maurizio, Sun, Angela, Wang, Raymond Y., Burton, Barbara K., Oussoren, Esmeralda, Martins, Esmeralda E., Durand, Consuelo, Chabrol, Brigitte, Ortiz, Lionel, Hetzer, Joel, Marsden, Deborah, Merritt, J. Lawrence, II, Giugliani, Roberto, Gonzalez-Meneses, Antonio
المصدر: In Molecular Genetics and Metabolism February 2024 141(2)
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4دورية أكاديمية
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5دورية أكاديمية
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المؤلفون: Bello, Luca, Punetha, Jaya, Gordish Dressman, Heather, Giri, Mamta, Hoffman, Eric P, Barp, Andrea, Vianello, Sara, Pegoraro, Elena, Flanigan, Kevin M., Weiss, Robert B., Spitali, Pietro, Aartsma Rus, Annemieke, Straub, Volker, Lochmüller, Hanns, Muntoni, Francesco, Zaharieva, Irina, Ferlini, Alessandra, Mercuri, Eugenio Maria, Tuffery Giraud, Sylvie, Claustres, Mireille, Mcdonald, Craig M., Dunn, Diane M., Swoboda, Kathryn J., Gappmaier, Eduard, Howard, Michael T., Sampson, Jacinda B., Bromberg, Mark B., Butterfield, Russell, Kerr, Lynne, Pestronk, Alan, Florence, Julaine M., Connolly, Anne, Lopate, Glenn, Golumbek, Paul, Schierbecker, Jeanine, Malkus, Betsy, Renna, Renee, Siener, Catherine, Finkel, Richard S., Bonnemann, Carsten G., Medne, Livija, Glanzman, Allan M., Flickinger, Jean, Mendell, Jerry R., King, Wendy M., Lowes, Linda, Alfano, Lindsay, Mathews, Katherine D., Stephan, Carrie, Laubenthal, Karla, Baldwin, Kris, Wong, Brenda, Morehart, Paula, Meyer, Amy, Day, John W., Naughton, Cameron E., Margolis, Marcia, Cnaan, Avital, Abresch, Richard T., Henricson, Erik K., Morgenroth, Lauren P., Duong, Tina, Chidambaranathan, V. Viswanathan, Biggar, W. Douglas, Mcadam, Laura C., Mah, Jean, Tulinius, Mar, Leshner, Robert, Rocha, Carolina Tesi, Thangarajh, Mathula, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel Hamid, Hoda, Connolly, Anne M., Teasley, Jean, Bertorini, Tulio E., North, Kathryn, Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Karachunski, Peter, Bodensteiner, John B.
المساهمون: Universita degli Studi di Padova, Department of Pediatric Nephrology, Maria Fareri Children's Hospital, Valhalla, New York, New York Medical College (NYMC), Human Genetics, Great Ormond Street Hospital for Children [London] (GOSH), Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, Università degli Studi di Ferrara (UniFE), Università cattolica del Sacro Cuore [Milano] (Unicatt), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Department of Neurology, Newcastle University [Newcastle], Department of Neurosciences [Padova, Italy], University of Padova [Padova, Italy], Massachusetts General Hospital [Boston], King‘s College London, Division of Pediatric Neurology, Cincinnati Children's Hospital Medical Center, Child Development & Exercise Center, Royal Children's Hospital, Washington University in Saint Louis (WUSTL), Institute for Neuromuscular Research, The University of Sydney, Rothamsted Research, University of Alberta, Department of Pediatrics, Feinberg School of Medicine, Northwestern University [Evanston]-Northwestern University [Evanston]-Northwestern University, Stanford School of Medicine [Stanford], Stanford Medicine, Stanford University-Stanford University
المصدر: American Journal of Human Genetics, 99(5), 1163-1171
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (5), pp.1163-1171. ⟨10.1016/j.ajhg.2016.08.023⟩مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Genetics, Genetics (clinical), Duchenne muscular dystrophy, [SDV]Life Sciences [q-bio], Genome-wide association study, Dystrophin, 0302 clinical medicine, Transforming Growth Factor beta, Osteopontin, Muscular Dystrophy, Muscular dystrophy, Modifier, Child, Exome, biology, NF-kappa B, Exons, Single Nucleotide, Adolescent, European Continental Ancestry Group, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, White People, NO, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Report, medicine, Humans, CD40 Antigens, Polymorphism, Glucocorticoids, Alleles, Case-Control Studies, Genes, Modifier, Genome-Wide Association Study, Latent TGF-beta Binding Proteins, Muscular Dystrophy, Duchenne, Mutation, medicine.disease, Duchenne, 030104 developmental biology, Genes, biology.protein, 030217 neurology & neurosurgery
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7دورية أكاديمية
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8دورية أكاديمية
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9دورية أكاديمية
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10دورية أكاديمية
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