المؤلفون: Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy, Suliman Khan, Natalia Ordonez‐Herrera, Kornélia Tripolszki, Christian Beetz, María Eugenia Rocha, Alize Urzi, Ronja Hotakainen, Anika Leubauer, Ruslan Al‐Ali, Vasiliki Karageorgou, Oana Moldovan, Patrícia Dias, Amal Alhashem, Brahim Tabarki, Mohammed Albalwi, Abdulrahman Alswaid, Zuhair N. Al‐Hassnan, Malak Alghamdi, Zahra Hadipour, Fatemeh Hadipour, Nadia Al Hashmi, Lihadh Al‐Gazali, Huma Arshad Cheema, Maha S. Zaki, Irina Hüning, Ahmed Alfares, Wafaa Eyaid, Fuad Al Mutairi, Majid Alfadhel, Fowzan S. Alkuraya, Nouriya Al‐Sannaa, Aisha M. Al‐Shamsi, Najim Ameziane, Arndt Rolfs, Péter Bauer

مصطلحات موضوعية: Standards and Guidelines for Genetic Variant Interpretation, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Genomic Rearrangements and Copy Number Variations, Genetic and Molecular Studies of Connective Tissue Disorders, Exome Sequencing, Phenotype Analysis, Exome sequencing, Exome, Candidate gene, Disease, Intellectual disability, Gene, Medicine, Phenotype, Bioinformatics, FOS Computer and information sciences, Biology, Pathology

العلاقة: https://dx.doi.org/10.60692/vxnat-gbv07Test

الإتاحة: https://doi.org/10.60692/k8zmg-rab1010.60692/vxnat-gbv07Test

المؤلفون: Brahim Tabarki, Malak Alghamdi, Fuad Al Mutairi, Arndt Rolfs, Zuhair N. Al-Hassnan, Najim Ameziane, Aida M. Bertoli-Avella, Abdulrahman Alswaid, Anika Leubauer, Huma Arshad Cheema, Fowzan S. Alkuraya, Suliman Khan, Mohammed AlBalwi, Lihadh Al-Gazali, Oana Moldovan, Wafaa Eyaid, Ahmed Alfares, Vasiliki Karageorgou, Nouriya Al-Sannaa, Alize Urzi, Patrícia Dias, Majid Alfadhel, Amal Alhashem, Nadia Al Hashmi, Krishna Kumar Kandaswamy, Kornelia Tripolszki, Peter Bauer, Fatemeh Hadipour, Irina Hüning, Ruslan Al-Ali, Maha S. Zaki, Maria Eugenia Rocha, Natalia Ordonez-Herrera, Zahra Hadipour, Aisha M. Al-Shamsi, Christian Beetz, Ronja Hotakainen

المصدر: Genetics in Medicine

مصطلحات موضوعية: Candidate gene, Base Sequence, medicine.diagnostic_test, Nerve Tissue Proteins, Disease, Computational biology, Biology, medicine.disease, Article, DNA sequencing, Phenotype, Intellectual Disability, Exome Sequencing, Intellectual disability, Human Phenotype Ontology, medicine, Humans, Exome, Gene, Genetics (clinical), Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d4b62d3053eb8cc2a55af978d72b485Test
https://doi.org/10.1038/s41436-021-01159-0Test

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: Nina Bögershausen, Hannah E. Krawczyk, Rami A. Jamra, Sheng‐Jia Lin, Gökhan Yigit, Irina Hüning, Anna M. Polo, Barbara Vona, Kevin Huang, Julia Schmidt, Janine Altmüller, Johannes Luppe, Konrad Platzer, Beate B. Dörgeloh, Andreas Busche, Saskia Biskup, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Arne Zibat, Eva Bültmann, Peter Nürnberg, Malte Spielmann, Johannes R. Lemke, Yun Li, Martin Zenker, Gaurav K. Varshney, Hauke S. Hillen, Christian P. Kratz, Bernd Wollnik

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, ANS - Amsterdam Neuroscience, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D)

المصدر: Human Mutations
Human mutation, 43(10), 1454-1471. Wiley-Liss Inc.
Human Mutation, 43(10), 1454-1471. Wiley-Liss Inc.
Bögershausen, N, Krawczyk, H E, Jamra, R A, Lin, S-J, Yigit, G K, Hüning, I, Polo, A M, Vona, B, Huang, K, Schmidt, J, Altmüller, J, Luppe, J, Platzer, K, Dörgeloh, B B, Busche, A, Biskup, S, Mendes, M I, Smith, D E C, Salomons, G S, Zibat, A, Bültmann, E, Nürnberg, P, Spielmann, M, Lemke, J R, Li, Y, Zenker, M, Varshney, G K, Hillen, H S, Kratz, C P & Wollnik, B 2022, ' WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly ', Human Mutation, vol. 43, no. 10, pp. 1454-1471 . https://doi.org/10.1002/humu.24430Test

مصطلحات موضوعية: aminoacylation, SARS1, Tryptophan-tRNA Ligase, WARS1, Amino Acyl-tRNA Synthetases, Ligases, RNA, Transfer, intellectual disability, Charcot-Marie-Tooth Disease, Genetics, Microcephaly, Animals, Humans, aminoacyl-tRNA synthetase, Technology Platforms, ARS, CRISPR/Cas9, tRNA, Genetics (clinical), Zebrafish

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85935df54049d5375dcb05087f17d26dTest
https://hdl.handle.net/21.11116/0000-000B-2BDE-C21.11116/0000-000B-2BE0-8Test

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: 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, 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. e25-9

مصطلحات 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