المؤلفون: Bublitz, S. K., Alhaddad, B., Synofzik, M., Kuhl, V., Lindner, A., Freiberg, C., Schmidt, H., Strom, T. M., Haack, T. B., Deschauer, M.

المصدر: Clinical genetics 92(5), 561-562 (2017). doi:10.1111/cge.13069

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Congenital Hypothyroidism: complications, Congenital Hypothyroidism: genetics, Diabetes Mellitus: genetics, Female, HSP40 Heat-Shock Proteins: genetics, Humans, Male, Mutation: genetics, Nerve Degeneration: complications, Nerve Degeneration: genetics, Pedigree, Phenotype, Young Adult, DNAJC3 protein, human, HSP40 Heat-Shock Proteins

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1399-0004; info:eu-repo/semantics/altIdentifier/issn/0009-9163; info:eu-repo/semantics/altIdentifier/pmid/pmid:28940199; https://pub.dzne.de/record/139550; https://pub.dzne.de/search?p=id:%22DZNE-2020-05872%22

الاتاحة: https://pub.dzne.de/record/139550
https://pub.dzne.de/search?p=id:%22DZNE-2020-05872%22

المؤلفون: Clemens Freiberg, V. Kuhl, Axel Lindner, Tobias B. Haack, T. M. Strom, Heinrich Schmidt, Marcus Deschauer, S.K. Bublitz, Matthis Synofzik, Bader Alhaddad

المصدر: Clinical genetics 92(5), 561-562 (2017). doi:10.1111/cge.13069

مصطلحات موضوعية: Male, 0301 basic medicine, DNAJC3 protein, human, genetics [Congenital Hypothyroidism], complications [Congenital Hypothyroidism], genetics [Mutation], 030209 endocrinology & metabolism, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, Genetics, medicine, Humans, ddc:610, genetics [Diabetes Mellitus], Genetics (clinical), business.industry, Neurodegeneration, HSP40 Heat-Shock Proteins, medicine.disease, Pathogenicity, Phenotype, Pedigree, complications [Nerve Degeneration], 030104 developmental biology, Feature (computer vision), genetics [Nerve Degeneration], Female, Identification (biology), DNAJC3, business, genetics [HSP40 Heat-Shock Proteins]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d0d20049cf17bd894a82d9f9ebaf51a
https://doi.org/10.1111/cge.13069

المؤلفون: Synofzik, Matthis, Haack, Tobias B, Gonzalez, Michael A, Fritsche, Andreas, Fallier-Becker, Petra, Zimmermann, Richard, Strom, Tim M, Meitinger, Thomas, Züchner, Stephan, Schüle, Rebecca, Schöls, Ludger, Prokisch, Holger, Kopajtich, Robert, Gorza, Matteo, Rapaport, Doron, Greiner, Markus, Schoenfeld, Caroline, Freiberg, Clemens, Schorr, Stefan, Holl, Reinhard W

المصدر: The American journal of human genetics 95(6), 689-697 (2014). doi:10.1016/j.ajhg.2014.10.013

مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Endoplasmic Reticulum Chaperone BiP, Adolescent, Adult, Ataxia: genetics, Diabetes Mellitus, Type 1: diagnostic imaging, Type 1: genetics, Exome: genetics, Female, Fibroblasts, Gene Expression Regulation, HSP40 Heat-Shock Proteins: genetics, HSP40 Heat-Shock Proteins: metabolism, Heat-Shock Proteins: genetics, Homozygote, Humans, Male, Models, Molecular, Multiple System Atrophy: diagnostic imaging, Multiple System Atrophy: genetics, Mutation, Pedigree, Phenotype, Radiography, Sequence Analysis, DNA, Young Adult, DNAJC3 protein

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:25466870; info:eu-repo/semantics/altIdentifier/issn/1537-6605; info:eu-repo/semantics/altIdentifier/issn/0002-9297; https://pub.dzne.de/record/137691; https://pub.dzne.de/search?p=id:%22DZNE-2020-04013%22

الاتاحة: https://pub.dzne.de/record/137691
https://pub.dzne.de/search?p=id:%22DZNE-2020-04013%22

المؤلفون: Tobias B. Haack, Ludger Schöls, Andreas Fritsche, Reinhard W. Holl, Doron Rapaport, Stefan Schorr, Markus Greiner, Petra Fallier-Becker, Rebecca Schüle, Richard Zimmermann, Caroline Schönfeld, Thomas Meitinger, Michael A. Gonzalez, Stephan Züchner, Clemens Freiberg, Tim M. Strom, Matteo Gorza, Robert Kopajtich, Holger Prokisch, Matthis Synofzik

المصدر: The American journal of human genetics 95(6), 689-697 (2014). doi:10.1016/j.ajhg.2014.10.013
Am. J. Hum. Genet. 95, 689-697 (2014)

مصطلحات موضوعية: Male, Models, Molecular, Bioinformatics, metabolism [HSP40 Heat-Shock Proteins], genetics [Heat-Shock Proteins], genetics [Exome], Medicine, Exome, Genetics(clinical), Endoplasmic Reticulum Chaperone BiP, Exome sequencing, Genetics (clinical), Heat-Shock Proteins, Neurodegeneration, Homozygote, genetics [Ataxia], diagnostic imaging [Multiple System Atrophy], 3. Good health, Pedigree, Co-chaperone, molecular chaperone GRP78, Phenotype, DNAJC3, Female, genetics [Multiple System Atrophy], Erratum, medicine.symptom, diagnostic imaging [Diabetes Mellitus, Type 1], genetics [HSP40 Heat-Shock Proteins], Adult, Ataxia, Adolescent, DNAJC3 protein, human, Biology, Young Adult, Report, Diabetes mellitus, ddc:570, Genetics, Humans, Allele, business.industry, Sequence Analysis, DNA, Multiple System Atrophy, Fibroblasts, HSP40 Heat-Shock Proteins, medicine.disease, Human genetics, genetics [Diabetes Mellitus, Type 1], Radiography, Peripheral neuropathy, Diabetes Mellitus, Type 1, Gene Expression Regulation, Immunology, Mutation, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7b2de1ea656c03d41b228c328278459