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1دورية أكاديمية
المؤلفون: Ravi Savarirayan, Daniel G. Hoernschemeyer, Merete Ljungberg, Yuri A. Zarate, Carlos A. Bacino, Michael B. Bober, Janet M. Legare, Wolfgang Högler, Teresa Quattrin, M. Jennifer Abuzzahab, Paul L. Hofman, Klane K. White, Nina S. Ma, Dirk Schnabel, Sérgio B. Sousa, Meng Mao, Alden Smith, Mukta Chakraborty, Adebola Giwa, Bent Winding, Birgitte Volck, Aimee D. Shu, Ciara McDonnell
المصدر: EClinicalMedicine, Vol 65, Iss , Pp 102258- (2023)
مصطلحات موضوعية: Achondroplasia, C-type natriuretic peptide, Growth, TransCon CNP, Paediatric, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2589537023004352Test; https://doaj.org/toc/2589-5370Test
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2دورية أكاديمية
المؤلفون: Yuri A. Zarate, Hilary J. Vernon, Katherine A. Bosanko, Praveen K. Ramani, Murat Gokden, Karin Writzl, Marija Meznaric, Tina Vipotnik Vesnaver, Raghu Ramakrishnaiah, Damjan Osredkar
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: SATB2, glass syndrome, mitochondrial disease, muscle biopsy, SATB2-Associated syndrome, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.692087/fullTest; https://doaj.org/toc/1664-8021Test
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3دورية أكاديمية
المؤلفون: Shelagh M. Szabo, Ioannis C. Tomazos, Anna Petryk, Lauren C. Powell, Bonnie M. K. Donato, Yuri A. Zarate, Anatoly Tiulpakov, Gabriel Ángel Martos-Moreno
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
مصطلحات موضوعية: Burden, Hypophosphatasia, Manifestations, Signs, Symptoms, Systematic literature review, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-019-1062-0Test; https://doaj.org/toc/1750-1172Test
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4دورية أكاديمية
المؤلفون: Nihit Kumar, Yuri A. Zarate
المصدر: Case Reports in Genetics, Vol 2020 (2020)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Yuri A. Zarate, Katherine A. Bosanko, Chaowapong Jarasvaraparn, Jaime Vengoechea, Elizabeth M. McDonough
المصدر: Case Reports in Pediatrics, Vol 2014 (2014)
مصطلحات موضوعية: Pediatrics, RJ1-570
وصف الملف: electronic resource
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6
المؤلفون: Yuri A. Zarate, Shaine A. Morris, Anna Blackshare, Claudia A. Algaze, Brynn S. Connor, Andrew J. Kim, Katherine E. Yutzey, Erin M. Miller, Kathryn Nicole Weaver, Ronnie Thomas Collins
المصدر: Genetics in Medicine. 24:1503-1511
مصطلحات موضوعية: Phenotype, Child, Preschool, Fibrillin-1, Mutation, Infant, Newborn, Humans, Reproducibility of Results, Fibrillins, Infant, Newborn, Diseases, Genetics (clinical), Marfan Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2412e6095e6057e82b0b8fc40b54efe9Test
https://doi.org/10.1016/j.gim.2022.03.016Test -
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المؤلفون: Brynn S. Connor, Claudia A. Algaze, Aistė Narkevičiūtė, Beatriz Anguiano, Mitchel Pariani, Yuri A. Zarate, R. Thomas Collins
المصدر: The American Journal of Cardiology. 175:119-126
مصطلحات موضوعية: Adult, Male, Ventricular Dysfunction, Left, Prevalence, Humans, Female, Stroke Volume, Cardiomyopathies, Cardiology and Cardiovascular Medicine, Ventricular Function, Left, Marfan Syndrome, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d377d795782cb775de1454095f0cf3Test
https://doi.org/10.1016/j.amjcard.2022.04.012Test -
8دورية أكاديمية
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9
المؤلفون: Irena J.J. Muffels, Imre F. Schene, Holger Rehmann, Maarten P.G. Massink, Maria M. van der Wal, Corinna Bauder, Martha Labeur, Natalia G. Armando, Maarten H. Lequin, Michiel L. Houben, Jaques C. Giltay, Saskia Haitjema, Albert Huisman, Fleur Vansenne, Judith Bluvstein, John Pappas, Lala V. Shailee, Yuri A. Zarate, Michal Mokry, Gijs W. van Haaften, Edward E.S. Nieuwenhuis, Damian Refojo, Femke van Wijk, Sabine A. Fuchs, Peter M. van Hasselt
المصدر: Am. J. Hum. Genet. 110, 146-160 (2023)
Am J Hum Genetمصطلحات موضوعية: Genetics, Lymphopenia, Nae1, Neddylation, Neurodegeneration, Ocurrence Ratio, Phenotypic Specificity, Post-translational Protein Modification, Proteasome, Ubiquitination, Article, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c527b80bc5f1809a16c16e4c32929181Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=67154Test -
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المؤلفون: Denise Horn, Anna-Elina Lehesjoki, Janina Gburek-Augustat, Amarilis Sanchez-Valle, Kenjiro Kosaki, Katherine Anderson, Anna-Kaisa Anttonen, Tohru Ishitani, Katja Kloth, Manuel Holtgrewe, Sora Harako, Rhonda E. Schnur, Maria J. Guillen Sacoto, Yutaka Hirose, Seiji Mizuno, Shizuka Ishitani, Kota Abe, Tadashi Kaname, Yusaku Kaido, Johannes Luppe, Nadja Ehmke, Michelle M. Morrow, John Pappas, Tatjana Bierhals, Masayuki Oginuma, David Viskochil, Yoshiaki Ohkuma, Tomoko Uehara, Konrad Platzer, Courtney L. Edgar-Zarate, Rachel Rabin, Yuri A. Zarate, Mikko Muona, Nobuhiko Okamoto
المساهمون: Department of Medical and Clinical Genetics, University of Helsinki, Medicum, HUSLAB, Anna-Elina Lehesjoki / Principal Investigator, Neuroscience Center, Helsinki University Hospital Area
المصدر: Genetics in Medicine. 23:1050-1057
مصطلحات موضوعية: 0301 basic medicine, GENES, CDK8, Mutation, Missense, PROTEIN, 030105 genetics & heredity, SEQUENCE, 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, medicine, Animals, Humans, Missense mutation, Kinase activity, Zebrafish, Genetics (clinical), Loss function, MEDIATOR COMPLEX, Genetics, biology, Autophosphorylation, Infant, biology.organism_classification, medicine.disease, Cyclin-Dependent Kinases, Hypotonia, MED12, 030104 developmental biology, Protein kinase domain, Neurodevelopmental Disorders, Gain of Function Mutation, 3111 Biomedicine, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5813c2192055f297fcafe358e6d9a2ecTest
https://doi.org/10.1038/s41436-020-01091-9Test
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