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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: Carolina Baquero-Montoya, Heiko Reutter, Andreas Busche, Yiran Guo, A. Micheil Innes, Alisha Wilkens, Nuria C. Bramswig, Donatella Milani, Denise Horn, Birgit Zirn, Roberta Onesimo, Beate Albrecht, Alma Kuechler, Sally Ann Lynch, Xilma R. Ortiz-Gonzalez, Irina Hüning, Britta Hanker, Cristina Gervasini, Matthew A. Deardorff, Giuseppe Zampino, Gabriele Gillessen-Kaesbach, Peter Wieacker, Livija Medne, Andreas Dalski, Chiara Leoni, Milena Mariani, Eva Christina Prott, Barbara Mikat, Yorck Hellenbroich, Axel Bohring, Ilaria Parenti, Eva Rossier, Elaine H. Zackai, Angelo Selicorni, Dagmar Wieczorek, Emanuele Agolini, Mark B. Mallozzi, Frank J. Kaiser, Hakon Hakonarson, Yun Li
المصدر: Clinical geneticsREFERENCES. 100(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Cornelia de Lange Syndrome, Adolescent, Medizin, 030105 genetics & heredity, Biology, 03 medical and health sciences, Broad spectrum, Young Adult, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Bone Diseases, Developmental, Tooth Abnormalities, Facies, KBG SYNDROME, medicine.disease, Phenotype, Pedigree, Developmental disorder, Repressor Proteins, 030104 developmental biology, Clinical diagnosis, Child, Preschool, Face, Mutation, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::668804a0e706fdf645d64ce67eee4e7bTest
https://pubmed.ncbi.nlm.nih.gov/33955014Test -
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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, 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: Irina Hüning, Volker Hingst, Nadja Budler, Joanne Trinh, Gabriele Gillessen-Kaesbach, Katja Lohmann
المصدر: Journal of Human Genetics. 62:1005-1006
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Sequence Homology, Biology, 03 medical and health sciences, fluids and secretions, mental disorders, Genetics, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Casein Kinase II, Child, Peptide sequence, reproductive and urinary physiology, Genetics (clinical), De novo mutation, Body Dysmorphic Disorders, Prognosis, Pedigree, 030104 developmental biology, Sequence homology, Neurodevelopmental Disorders, Mutation, Mutation (genetic algorithm), Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f247398914048cd5e5661e50ae92b9eTest
https://doi.org/10.1038/jhg.2017.73Test -
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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 -
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المؤلفون: Stephen R F, Twigg, Deborah, Lloyd, Dagan, Jenkins, Nursel E, Elçioglu, Christopher D O, Cooper, Nouriya, Al-Sannaa, Ali, Annagür, Gabriele, Gillessen-Kaesbach, Irina, Hüning, Samantha J L, Knight, Judith A, Goodship, Bernard D, Keavney, Philip L, Beales, Opher, Gileadi, Simon J, McGowan, Andrew O M, Wilkie
المصدر: American journal of human genetics. 91(5)
مصطلحات موضوعية: Male, Genotype, Facies, Membrane Proteins, Acrocephalosyndactylia, Animals, Genetically Modified, Child, Preschool, Report, Mutation, Animals, Humans, Female, Child, Alleles, Genetic Association Studies, Zebrafish
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::8b9e996527f782c0f2030b2928de1d1eTest
https://pubmed.ncbi.nlm.nih.gov/23063620Test