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1دورية أكاديمية
المؤلفون: Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt II
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Lysosomal storage disease, Non-immune hydrops fetalis, β-glucuronidase deficiency, Mucopolysaccharidosis VII, MPS VII, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Michal Inbar-Feigenberg, Barbara Burton, Amarilis Sanchez-Valle, Jerry Vockley, Anjali Aggarwal, Joel Hetzer, Bridget Reineking, Andrew Grimm
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100890- (2024)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Barbara Burton, Ans van der Ploeg, Esmeralda Martins, Consuelo Durand, Brigitte Chabrol, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101157- (2024)
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100218- (2023)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Eric Laille, Tao Shi, Guillermo Garcia-Manero, Christopher R Cogle, Steven D Gore, Joel Hetzer, Keshava Kumar, Barry Skikne, Kyle J MacBeth
المصدر: PLoS ONE, Vol 10, Iss 8, p e0135520 (2015)
وصف الملف: electronic resource
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6
المؤلفون: Thomas J Weber, Erik A Imel, Thomas O Carpenter, Munro Peacock, Anthony A Portale, Joel Hetzer, J Lawrence Merritt, Karl Insogna
المصدر: The Journal of Clinical Endocrinology & Metabolism. 108:155-165
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Biochemistry
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6fce1a03c5d88f20e683eb7f2461794
https://doi.org/10.1210/clinem/dgac518 -
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المؤلفون: Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Lee Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt
المصدر: Molecular Genetics and Metabolism. 138:107417
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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8
المؤلفون: Thomas Carpenter, Hamilton Cassinelli, Francis Glorieux, Joel Hetzer, J Lawrence Merritt II, Carolina A Moreira, Anthony Portale, Leanne Ward, Claudine Woo, Erik Imel
المصدر: Journal of the Endocrine Society. 6:A191-A192
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::da78c9ede284631124c81d2faab01fb8
https://doi.org/10.1210/jendso/bvac150.395 -
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المؤلفون: Roberto Giugliani, Antonio Gonzalez-Meneses Lopez, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Y. Wang, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt
المصدر: Molecular Genetics and Metabolism. 138:107117
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
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10
المؤلفون: Thomas Carpenter, Tricia Cimms, Joel Hetzer, Karl Insogna, Rajiv Kumar, J Lawrence Merritt II, Paul Miller, Munro Peacock, Frank Rauch, Irinel Stanciu, Thomas Weber, Suzanne Jan De Beur
المصدر: Journal of the Endocrine Society. 6:A191-A191
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bb3400878d90d2f714e4007a83660566
https://doi.org/10.1210/jendso/bvac150.394