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

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. 70-75

مصطلحات 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

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

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/mgg3.60

مصطلحات 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

المؤلفون: Irina Hüning, Lovisa Lovmar, Anna Erlandsson, Margarita Stefanova, Julia Rundberg, Kerstin Kutsche, Saideh Rajaei

المصدر: European Journal of Medical Genetics. 56:188-191

مصطلحات موضوعية: Male, medicine.medical_specialty, Ubiquitin-Protein Ligases, Biology, Exon, Esophagus, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Hypertelorism, Genetics (clinical), Hypospadias, Point mutation, Infant, Nuclear Proteins, Exons, General Medicine, Opitz G/BBB Syndrome, medicine.disease, Phenotype, Protein Structure, Tertiary, Tandem Repeat Sequences, Microtubule Proteins, Medical genetics, Tandem exon duplication, medicine.symptom, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c17318fd28a1c184bba31b74f88758dfTest
https://doi.org/10.1016/j.ejmg.2013.01.004Test

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