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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: 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, Katja Lohmann, Joerg Klepper, Anna-Lena Baasch, Christian Gilissen, Joris A. Veltman, Alexander Hoischen, Gabriele Gillessen-Kaesbach
المصدر: Epilepsia, 55, e25-9
Epilepsia, 55, 4, pp. e25-9مصطلحات موضوعية: Mutation, Missense, medicine.disease_cause, Epilepsy, Atrophy, Seizures, Intellectual Disability, Intellectual disability, medicine, Missense mutation, Humans, Exome, Exome sequencing, Genetics, Mutation, NAV1.2 Voltage-Gated Sodium Channel, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Muscular hypotonia, Genetic heterogeneity, business.industry, Brain, medicine.disease, Optic Atrophy, Phenotype, Neurology, Child, Preschool, Muscle Hypotonia, Female, Neurology (clinical), business, Neurodevelopmental disorders Radboud Institute for Molecular Life Sciences [Radboudumc 7]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0172945b50fd072525213bb2544ab0fTest
https://doi.org/10.1111/epi.12554Test