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

المصدر: Clinical geneticsREFERENCES. 98(4)

مصطلحات موضوعية: Male, Beckwith-Wiedemann Syndrome, Chromosomes, Human, Pair 11, Infant, Newborn, Infant, Genomic Imprinting, Silver-Russell Syndrome, Phenotype, Insulin-Like Growth Factor II, Child, Preschool, Chromosome Duplication, Humans, Female, Genetic Predisposition to Disease, RNA, Long Noncoding, Chromosome Deletion, Child, Alleles

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::845014599d70be096827dd18748f2e70Test
https://pubmed.ncbi.nlm.nih.gov/33294970Test

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

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, 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

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