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1دورية أكاديمية
المؤلفون: Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J. Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B. Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Rare neurological diseases, Optimal care, Interdisciplinary management, Healthcare settings, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية 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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3دورية أكاديمية
المؤلفون: Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J. Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B. Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Sociology, Science Policy, Hematology, Infectious Diseases, Rare neurological diseases, Optimal care, Interdisciplinary management, Healthcare settings
الإتاحة: https://doi.org/10.6084/m9.figshare.25210645.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Recommendations_for_optimal_interdisciplinary_management_and_healthcare_settings_for_patients_with_rare_neurological_diseases/25210645Test -
4دورية أكاديمية
المؤلفون: Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan, Natalia Ordonez‐Herrera, Kornélia Tripolszki, Christian Beetz, María Eugenia Rocha, Alize Urzi, Ronja Hotakainen, Anika Leubauer, Ruslan Al‐Ali, Vasiliki Karageorgou, Oana Moldovan, Patrícia Dias, Amal Alhashem, Brahim Tabarki, Mohammed Albalwi, Abdulrahman Alswaid, Zuhair N. Al‐Hassnan, Malak Alghamdi, Zahra Hadipour, Fatemeh Hadipour, Nadia Al Hashmi, Lihadh Al‐Gazali, Huma Arshad Cheema, Maha S. Zaki, Irina Hüning, Ahmed Alfares, Wafaa Eyaid, Fuad Al Mutairi, Majid Alfadhel, Fowzan S. Alkuraya, Nouriya Al‐Sannaa, Aisha M. Al‐Shamsi, Najim Ameziane, Arndt Rolfs, Péter Bauer
مصطلحات موضوعية: Standards and Guidelines for Genetic Variant Interpretation, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Genomic Rearrangements and Copy Number Variations, Genetic and Molecular Studies of Connective Tissue Disorders, Exome Sequencing, Phenotype Analysis, Exome sequencing, Exome, Candidate gene, Disease, Intellectual disability, Gene, Medicine, Phenotype, Bioinformatics, FOS Computer and information sciences, Biology, Pathology
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5
المؤلفون: Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven, Christoffer Nellaker, Hanka Venselaar, Galuh D.N. Astuti, Tahsin Stefan Barakat, E. Martina Bebin, Stefanie Beck-Wödl, Gea Beunders, Natasha J. Brown, Theresa Brunet, Han G. Brunner, Philippe M. Campeau, Goran Čuturilo, Christian Gilissen, Tobias B. Haack, Irina Hüning, Ralf A. Husain, Benjamin Kamien, Sze Chern Lim, Luca Lovrecic, Janine Magg, Ales Maver, Valancy Miranda, Danielle C. Monteil, Charlotte W. Ockeloen, Lynn S. Pais, Vasilica Plaiasu, Laura Raiti, Christopher Richmond, Angelika Rieß, Eva M.C. Schwaibold, Marleen E.H. Simon, Stephanie Spranger, Tiong Yang Tan, Michelle L. Thompson, Bert B.A. de Vries, Ella J. Wilkins, Marjolein H. Willemsen, Clyde Francks, Lisenka E.L.M. Vissers, Simon E. Fisher, Tjitske Kleefstra
المساهمون: Clinical Genetics, MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine
المصدر: Genetics in Medicine, 24(6), 1283-1296. Lippincott Williams & Wilkins
Genetics in Medicine, 24(6), 1283-1296. Nature Publishing Group
Genetics in Medicine, 24, 1283-1296
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicineمصطلحات موضوعية: Neuroinformatics, Heterozygote, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], DNA Helicases, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], CHD3, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Reduced penetrance, Phenotype, All institutes and research themes of the Radboud University Medical Center, RARE, SDG 3 - Good Health and Well-being, Neurodevelopmental disorder, Neurodevelopmental Disorders, Variable expressivity, Humans, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Genetics (clinical), Mi-2 Nucleosome Remodeling and Deacetylase Complex, Inherited variants
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c634fbbfbfe9fc61dcffebf9b78acf3Test
https://doi.org/10.1016/j.gim.2022.02.014Test -
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المؤلفون: Brahim Tabarki, Malak Alghamdi, Fuad Al Mutairi, Arndt Rolfs, Zuhair N. Al-Hassnan, Najim Ameziane, Aida M. Bertoli-Avella, Abdulrahman Alswaid, Anika Leubauer, Huma Arshad Cheema, Fowzan S. Alkuraya, Suliman Khan, Mohammed AlBalwi, Lihadh Al-Gazali, Oana Moldovan, Wafaa Eyaid, Ahmed Alfares, Vasiliki Karageorgou, Nouriya Al-Sannaa, Alize Urzi, Patrícia Dias, Majid Alfadhel, Amal Alhashem, Nadia Al Hashmi, Krishna Kumar Kandaswamy, Kornelia Tripolszki, Peter Bauer, Fatemeh Hadipour, Irina Hüning, Ruslan Al-Ali, Maha S. Zaki, Maria Eugenia Rocha, Natalia Ordonez-Herrera, Zahra Hadipour, Aisha M. Al-Shamsi, Christian Beetz, Ronja Hotakainen
المصدر: Genetics in Medicine
مصطلحات موضوعية: Candidate gene, Base Sequence, medicine.diagnostic_test, Nerve Tissue Proteins, Disease, Computational biology, Biology, medicine.disease, Article, DNA sequencing, Phenotype, Intellectual Disability, Exome Sequencing, Intellectual disability, Human Phenotype Ontology, medicine, Humans, Exome, Gene, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d4b62d3053eb8cc2a55af978d72b485Test
https://doi.org/10.1038/s41436-021-01159-0Test -
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المؤلفون: Irina Hüning, Britta Hanker, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Hermann-Josef Lüdecke
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Micrognathism, Mutation, Missense, Brief Communication, SOXC Transcription Factors, 03 medical and health sciences, Intellectual Disability, Intellectual disability, Genetics, Medicine, Missense mutation, ADHD, Humans, Abnormalities, Multiple, Child, Coffin–Siris syndrome, Genetics (clinical), Normal range, 030304 developmental biology, 0303 health sciences, Maternal Transmission, Muscular hypotonia, business.industry, 030305 genetics & heredity, Autism spectrum disorders, medicine.disease, Phenotype, Pedigree, body regions, Hypoplastic nails, Face, Female, business, Hand Deformities, Congenital, Neck
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d9c510ebf674ad8851ca62104def00bTest
http://europepmc.org/articles/PMC8738766Test -
8
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 -
9A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay
المؤلفون: Irina Hüning, Katja Lohmann, Zafer Yüksel, Christine Klein, Sophie Imhoff, Nadja Baalmann, Gabriele Gillessen-Kaesbach, Arndt Rolfs, Joanne Trinh
المصدر: Journal of Human Genetics. 63:997-1001
مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Developmental Disabilities, Mutation, Missense, Chromosome Disorders, Short stature, 03 medical and health sciences, Intellectual disability, Genotype, Genetics, medicine, Humans, Missense mutation, Global developmental delay, Child, Genetics (clinical), Exome sequencing, Genes, Dominant, Histone Acetyltransferases, Massive parallel sequencing, business.industry, medicine.disease, 030104 developmental biology, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc05163871b08b35b63e1be2149b70dbTest
https://doi.org/10.1038/s10038-018-0469-0Test -
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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