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1دورية أكاديمية
المؤلفون: Andreas Recke, Elisabeth G. Massalme, Uta Jappe, Lars Steinmüller-Magin, Julia Schmidt, Yorck Hellenbroich, Irina Hüning, Gabriele Gillessen-Kaesbach, Detlef Zillikens, Karin Hartmann
المصدر: Clinical and Translational Allergy, Vol 9, Iss 1, Pp 1-4 (2019)
مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13601-019-0247-xTest; https://doaj.org/toc/2045-7022Test
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المؤلفون: Detlef Zillikens, Yorck Hellenbroich, Andreas Recke, Elisabeth G. Massalme, Irina Hüning, Julia Schmidt, Uta Jappe, Karin Hartmann, Lars Steinmüller-Magin, Gabriele Gillessen-Kaesbach
المصدر: Clinical and Translational Allergy, Vol 9, Iss 1, Pp 1-4 (2019)
Clinical and Translational Allergyمصطلحات موضوعية: Pulmonary and Respiratory Medicine, Allergy, Immunology, Bradykinin, Coagulation Factor XII, medicine.disease_cause, Pathogenesis, 030207 dermatology & venereal diseases, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Icatibant, Immunology and Allergy, Medicine, Missense mutation, Letter to the Editor, Mutation, business.industry, RC581-607, medicine.disease, 3. Good health, 030228 respiratory system, chemistry, Hereditary angioedema, Immunologic diseases. Allergy, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adf411b875c909d67a4708ee1ef10d1bTest
http://link.springer.com/article/10.1186/s13601-019-0247-xTest -
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المؤلفون: Thomas Eggermann, Eva Klopocki, Maja Hempel, Erdmute Kunstmann, Katja Kloth, Irina Hüning, Florian Kraft
مصطلحات موضوعية: Genetics, Imprinting (psychology), Allele, Biology, Phenotype
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::380e2f7e61746b87b95d660905a23771Test
https://doi.org/10.1111/cge.13820/v2/response1Test -
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المؤلفون: Erdmute Kunstmann, Maja Hempel, Eva Klopocki, Thomas Eggermann, Florian Kraft, Irina Hüning, Katja Kloth
المصدر: Clinical Genetics. 98:418-419
مصطلحات موضوعية: 0301 basic medicine, Genetics, 03 medical and health sciences, 030104 developmental biology, Gene duplication, 030105 genetics & heredity, Allele, Biology, Imprinting (psychology), Phenotype, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7502da0e4575cb8e9bcd14fc7b6e9590Test
https://doi.org/10.1111/cge.13820Test -
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المؤلفون: Irina Hüning, Gabriele Gillessen-Kaesbach
المصدر: eLS
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Mutation, business.industry, Genetic disorder, ACVR1, medicine.disease, Bioinformatics, medicine.disease_cause, Phenotype, Molecular genetics, Fibrodysplasia ossificans progressiva, medicine, Missense mutation, Heterotopic ossification, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5dffbfe081eee972df6cdf43dcb83a31Test
https://doi.org/10.1002/9780470015902.a0026930Test -
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المؤلفون: Irina Hüning, Rainer Gabriel, Tim M. Strom, Thomas Schwarzmayr, Konrad Platzer, Carolin Obieglo, Gabriele Gillessen-Kaesbach, Frank J. Kaiser
المصدر: American Journal of Medical Genetics Part A. 164:1976-1980
مصطلحات موضوعية: Male, Heterozygote, Nonsense mutation, Corpus callosum, Compound heterozygosity, Congenital Abnormalities, Corpus Callosum, Epilepsy, Seizures, Intellectual Disability, Intellectual disability, Genetics, Humans, Medicine, Exome, Child, Genetics (clinical), Exome sequencing, Coloboma, business.industry, Siblings, Facies, High-Throughput Nucleotide Sequencing, Syndrome, medicine.disease, Hypoplasia, Phenotype, Mutation, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::518d40d28cbdf7458bc3709eae8b161cTest
https://doi.org/10.1002/ajmg.a.36592Test -
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المؤلفون: Guntram Borck, Yorck Hellenbroich, Sigrid Tinschert, Christine Fauth, Andreas Ferbert, Erdmute Kunstmann, Sabine Hoffjan, Martina Mair, Omid Nikoubashman, Knut Brockmann, Barbara Zoll, G. Christoph Korenke, Stefanie Spiegler, Silke Pauli, Stephanie Gkalympoudis, Mark H. Ginsberg, Winnie Schröder, Jian Liu, Juliane Najm, Irene Sudholt, Peter M. Kroisel, Ute Felbor, Ulrich Sure, Susanne Munk-Schulenburg, Wolfram Henn, Irina Hüning, Sabine Rudnik-Schöneborn, Leonie Freudenberg, Michaela Wiednig, Ute Grasshoff, Miriam Elbracht
المساهمون: University of Zurich, Felbor, Ute
المصدر: Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol 2, iss 2
Molecular genetics & genomic medicine : MGGM 2(2), 176-185 (2014). doi:10.1002/mgg3.60مصطلحات موضوعية: Proband, 2716 Genetics (clinical), Pediatrics, medicine.medical_specialty, predictive testing, 10039 Institute of Medical Genetics, Clinical Sciences, 610 Medicine & health, Medicinal and Biomolecular Chemistry, Epilepsy, 1311 Genetics, 1312 Molecular Biology, Genetics, medicine, Missense mutation, Family history, CCM1, 10. No inequality, Predictive testing, Molecular Biology, Stroke, CCM3, Genetics (clinical), CCM2, Genetic testing, HEG1, medicine.diagnostic_test, business.industry, cerebral cavernous malformation, mutation detection rate, medicine.disease, 3. Good health, Age at disease onset, Mutation (genetic algorithm), 570 Life sciences, biology, Original Article, business
وصف الملف: Molec_Gen___Gen_Med___2014___Spiegler___High_mutation_detection_rates_in_cerebral_cavernous_malformation_upon_stringent.pdf - application/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a1a5246ea4777ff6fce26b154af875eTest
https://doi.org/10.1002/mgg3.60Test -
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