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1دورية أكاديمية
المؤلفون: Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis, Bruno Bembi, Marc C. Patterson, Marie T. Vanier, Tarekegn Geberhiwot
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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المؤلفون: Paul Gissen, Saikat Santra, Jim Green, Maria Jose Coll, Andrea Dardis, Charlotte Dawson, Reena Sharma, Toni Mathieson, Shaun Bolton, Helena Jahnová, Jackie Imrie, Marc C. Patterson, Marie Therese Vanier, Tarekegn Geberhiwot, Vina Soran, Bruno Bembi, Ellen Crushell, Simon Jones, Mercedes Pineda Marfa, Miriam Stampfer
مصطلحات موضوعية: medicine.medical_specialty, Niemann–Pick disease, type C, business.industry, Medicine, business, Clinical disease, medicine.disease, Niemann–Pick disease, Dermatology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dd3b2e32b09f1edd24eacb9eb605e5f2Test
https://doi.org/10.21203/rs.3.rs-934191/v1Test -
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المؤلفون: Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis, Bruno Bembi, Marc C. Patterson, Marie T. Vanier, Tarekegn Geberhiwot
المصدر: Orphanet journal of rare diseases. 17(1)
مصطلحات موضوعية: Adult, Infant, Newborn, Humans, Pharmacology (medical), Niemann-Pick Disease, Type C, General Medicine, Prospective Studies, Registries, Enzyme Inhibitors, Child, Genetics (clinical), Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee6c602ac958b735f1d172ae2b088f2fTest
https://pubmed.ncbi.nlm.nih.gov/35164809Test -
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المؤلفون: Annalisa Pianta, Susanna Lualdi, Andrea Dardis, Richard O. Sinnott, Bruno Bembi, Laura Gort, Mirella Filocamo, Stefania Zampieri, Maria Jose Coll, Tarekegn Geberhiwot
المصدر: Human Mutation. 37:139-147
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Database, In silico, Biology, computer.software_genre, medicine.disease_cause, Phenotype, Frameshift mutation, 03 medical and health sciences, Exon, 030104 developmental biology, Genotype, medicine, Missense mutation, Gene, computer, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::43384fc4b91a4eaea9be6cbd5aa6499bTest
https://doi.org/10.1002/humu.22923Test -
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المؤلفون: Laura Gort Mas, Maria Jose Coll, Johana Reinoso, Jordi Yague, Jose-Vicente Torregrosa, Jessica Ugalde, Esteban Poch
المصدر: Nephrology Dialysis Transplantation. 33:i348-i348
مصطلحات موضوعية: Transplantation, Pediatrics, medicine.medical_specialty, education.field_of_study, Nephrology, business.industry, Population, Medicine, business, education
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a41b87fcd86af9f8755a37b8035b3c76Test
https://doi.org/10.1093/ndt/gfy104.sp005Test -
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المؤلفون: Jim Green, Maria Jose Coll, Bruno Bembi, Simon Jones, Martin Hrbicek, Eugen Mengel, Jackie Imrie, Mercè Pineda, Marc C. Patterson, Tarek Hiwot, Ellen Crushell
المصدر: Molecular Genetics and Metabolism. 123:S68
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Family medicine, Genetics, medicine, Niemann–Pick disease, medicine.disease, business, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1dd0bff254b35b85c555af6726bede2aTest
https://doi.org/10.1016/j.ymgme.2017.12.168Test -
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المؤلفون: Stefania, Zampieri, Mirella, Filocamo, Annalisa, Pianta, Susanna, Lualdi, Laura, Gort, Maria Jose, Coll, Richard, Sinnott, Tarekegn, Geberhiwot, Bruno, Bembi, Andrea, Dardis
المصدر: Human mutation. 37(2)
مصطلحات موضوعية: Genotype, RNA Splicing, Gene Expression, Genes, Recessive, Exons, Niemann-Pick Disease, Type B, Niemann-Pick Disease, Type A, Introns, Open Reading Frames, Phenotype, Sphingomyelin Phosphodiesterase, Databases, Genetic, Mutation, Humans, RNA, Messenger, Genetic Association Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::19d3168dd8c83a835e99dbbd6f659207Test
https://pubmed.ncbi.nlm.nih.gov/26499107Test -
8دورية أكاديمية
المؤلفون: Carlos Enríquez, Juan Manuel Jurado, Alexandro Bailey, Danilo Callén, María José Collado, Gabriel Espina, Pablo Marroquín, Erick Oliva, Edgar Osla, María Isabel Ramos, Scarlett Sarceño, Francisco Ramón Feito
المصدر: Remote Sensing, Vol 12, Iss 15, p 2377 (2020)
مصطلحات موضوعية: remote sensing, archaeology, geomatics, 3D reconstruction, UAS, Science
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: María José Collado Ruiz
المصدر: Documenta & Instrumenta, Vol 10, Iss 0, Pp 25-43 (2012)
مصطلحات موضوعية: Roma, Orden Trinitaria, España, San Carlino, enterramiento, Diplomatics. Archives. Seals, CD1-6471
وصف الملف: electronic resource
العلاقة: http://147.96.1.34/index.php/DOCU/article/view/40484Test; https://doaj.org/toc/1697-4328Test; https://doaj.org/toc/1697-3798Test
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10دورية أكاديمية
المؤلفون: María José Collado Ruiz
المصدر: Asparkía, Vol 21, Pp 169-184 (2010)
مصطلحات موضوعية: mujer, Antiguo Régimen, mecenas, tumba, capilla, woman, Ancient Regime, benefactor, tomb, chapel, Women. Feminism, HQ1101-2030.7
وصف الملف: electronic resource