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: 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

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

المؤلفون: Erdmute Kunstmann, Maja Hempel, Eva Klopocki, Thomas Eggermann, Florian Kraft, Irina Hüning, Katja Kloth

المصدر: Clinical Genetics. 98:418-419

مصطلحات موضوعية: 0301 basic medicine, Genetics, 03 medical and health sciences, 030104 developmental biology, Gene duplication, 030105 genetics & heredity, Allele, Biology, Imprinting (psychology), Phenotype, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7502da0e4575cb8e9bcd14fc7b6e9590Test
https://doi.org/10.1111/cge.13820Test

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

المؤلفون: Eva Hebert, Ikuo Masuho, Dusanka Savic-Pavicevic, Irina Hüning, Nickolas K. Skamangas, Sofia Steinrücke, Katja Lohmann, Daniel Trujillano, Valerija Dobricic, Ana Westenberger, Alexander Münchau, Gabriele Gillessen-Kaesbach, Christine Klein, Hauke Baumann, Dipak N. Patil, Kirill A. Martemyanov, Arndt Rolfs, Gabriela-Elena Oprea

المصدر: Human Molecular Genetics. :ddx018

مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Mutant, Mutation, Missense, Biology, Frameshift mutation, 03 medical and health sciences, Heterotrimeric G protein, Genetics, Humans, Missense mutation, Exome, Child, Molecular Biology, Gene, Genetics (clinical), Exome sequencing, Neurons, Receptors, Dopamine D1, GTP-Binding Protein beta Subunits, Gene Expression Regulation, Developmental, Infant, Articles, General Medicine, Heterotrimeric GTP-Binding Proteins, 3. Good health, 030104 developmental biology, Child, Preschool, Female, GNB1, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bca631f0a69440bce859fefd0f044144Test
https://doi.org/10.1093/hmg/ddx018Test