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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 -
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المؤلفون: Bader Alhaddad, Matej Skorvanek, Erik-Jan Kamsteeg, Petra Dosekova, Katharina Vill, Michael Zech, Zuzana Gdovinova, Riccardo Berutti, Irina Hüning, Jasper J. van der Smagt, Britta Hanker, Tim M. Strom, Evžen Růžička, Vladimír Haň, Matias Wagner, Theresa Brunet, Robert Jech, Astrid Blaschek, Juliane Winkelmann
المصدر: Parkinsonism & Related Disorders, 77, 70-75
Parkinsonism & Related Disorders, 77, pp. 70-75مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, Genotype, Compound heterozygosity, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Frameshift mutation, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Intellectual Disability, medicine, Humans, Spinocerebellar Ataxias, Missense mutation, Spasticity, Allele, Child, Dystonia, Spastic Paraplegia, Hereditary, business.industry, medicine.disease, Null allele, Pedigree, Myelin-Associated Glycoprotein, Optic Atrophy, 030104 developmental biology, nervous system, Neurology, Dystonic Disorders, Muscle Spasticity, Child, Preschool, Mutation, Female, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::523d9d018735a3cf5891e03b5486aab0Test
https://doi.org/10.1016/j.parkreldis.2020.06.027Test -
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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 -
4A 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: 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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المؤلفون: Irina Hüning, Gabriele Gillessen-Kaesbach
المصدر: Molecular syndromology. 5(5)
مصطلحات موضوعية: Genetics, medicine.medical_specialty, business.industry, Ossification, Genetic disorder, Clinical course, Review Article, ACVR1, medicine.disease, Phenotype, Genotype phenotype, Surgery, ACVR1 Gene, Fibrodysplasia ossificans progressiva, Medicine, medicine.symptom, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8265cb21439b1f35e9c10d235ff2b97cTest
https://pubmed.ncbi.nlm.nih.gov/25337067Test -
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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