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1
المؤلفون: Sarah Azimi, Leila Nouri Vahid, Krystyna Keleman, Pooneh Nikuei, Tara Akhtarkhavari, Thomas F. Wienker, Beate Albrecht, Hossein Khodaei, Mohammad Reza Ebrahimpour, Mohammad Javad Soltani Banavandi, Marzieh Mohseni, Vanessa Suckow, Aria Jankhah, Milad Bastami, Behzad Davarnia, Vera M. Kalscheuer, Farzaneh Larti, Saeide Akbari, Kimia Kahrizi, Jamileh Rezazadeh Varaghchi, Bettina Lipkowitz, Sanaz Arzhangi, Morteza Oladnabi, Monika Cohen, Sabine Otto, Zohreh Fattahi, Luciana Musante, Payman Jamali, Maryam Beheshtian, Masoumeh Hosseini, Maryam Taghdiri, Wei Chen, Seyedeh Sedigheh Abedini, Bernd Timmermann, Hans-Hilger Ropers, Andreas Tzschach, Gholamreza Bahrami, Birgit Zirn, Hossein Najmabadi, Dagmar Wieczorek, Ingrid Bader, Gabriele Gillessen-Kaesbach, Cornelia Oppitz, Elaheh Papari, Hao Hu, Ralf Herwig, Fatemeh Pourfatemi, Jutta Gärtner, Faezeh Mojahedi, Hossein Dehghani, Sepideh Mehvari, Seyed Hassan Tonekaboni
المصدر: Molecular Psychiatry
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Medizin, Genes, Recessive, Consanguinity, Iran, Biology, DNA sequencing, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Intellectual disability, medicine, Humans, Exome, Family, Protein Interaction Maps, Molecular Biology, Gene, De novo mutations, Affected offspring, Whole genome sequencing, Genetics, Whole Genome Sequencing, Homozygote, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Pedigree, Psychiatry and Mental health, 030104 developmental biology, Mutation, Female, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eda29e76af95f3244bac3fef885f1ad6Test
https://hdl.handle.net/21.11116/0000-0000-638A-5Test -
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المؤلفون: Rogier Donders, Hans van Bokhoven, Jamie M. Kramer, Cornelia Oppitz, Tom S. Koemans, Krystyna Keleman, Annette Schenck
المصدر: Journal of Visualized Experiments.
مصطلحات موضوعية: 0301 basic medicine, General Immunology and Microbiology, biology, Courtship display, Long-term memory, General Chemical Engineering, General Neuroscience, media_common.quotation_subject, fungi, Short-term memory, Cognition, biology.organism_classification, medicine.disease, General Biochemistry, Genetics and Molecular Biology, Courtship, 03 medical and health sciences, 030104 developmental biology, medicine, Autism, Drosophila melanogaster, Drosophila, Neuroscience, media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b731d6fe6d1c14866f81ccd9bc949bfTest
https://doi.org/10.3791/55808Test -
3
المؤلفون: Barbara Krystyna, Stepien, Cornelia, Oppitz, Daniel, Gerlach, Ugur, Dag, Maria, Novatchkova, Sebastian, Krüttner, Alexander, Stark, Krystyna, Keleman
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 113(45)
مصطلحات موضوعية: PNAS Plus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::674b22b6d3703ac974cf58264a73f5cfTest
https://pubmed.ncbi.nlm.nih.gov/27791065Test -
4
المؤلفون: Daniel Gerlach, Cornelia Oppitz, Krystyna Keleman, Alexander Stark, Maria Novatchkova, Sebastian Krüttner, Ugur Dag, Barbara K. Stepien
المصدر: Proceedings of the National Academy of Sciences. 113
مصطلحات موضوعية: 0301 basic medicine, Gene knockdown, Multidisciplinary, Polyadenylation, biology, RNA, Translation (biology), Molecular biology, CPEB, Cell biology, 03 medical and health sciences, 030104 developmental biology, RNA interference, biology.protein, Protein biosynthesis, MRNA transport
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4882b63c1304561a9c5d8b785d1dd283Test
https://doi.org/10.1073/pnas.1603715113Test -
5
المؤلفون: Kimia Kahrizi, Steffen Uebe, Ulrich Zechner, Cornelia Oppitz, Susann Schweiger, Heinrich Sticht, Luciana Musante, Hossein Najmabadi, Hao Hu, Thomas F. Wienker, Rami Abou Jamra, Miriam S. Reuter, Arif B. Ekici, Stefan Diederich, Oliver Bartsch, Krystyna Keleman, André Reis
المصدر: American Journal of Medical Genetics Part A
مصطلحات موضوعية: Adult, Male, Models, Molecular, Candidate gene, Adolescent, Genotype, Protein Conformation, DNA Mutational Analysis, Mutation, Missense, Genes, Recessive, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Animals, Genetically Modified, Epilepsy, Consanguinity, Young Adult, Protein structure, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Animals, Humans, Child, Genetics (clinical), Gene knockdown, Muscular hypotonia, Behavior, Animal, Computational Biology, Facies, High-Throughput Nucleotide Sequencing, medicine.disease, Phenotype, Pedigree, Child, Preschool, Gene Knockdown Techniques, Drosophila, Female, Sulfotransferases, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61ace5fa6f337cf778345dd459d57029Test
https://pubmed.ncbi.nlm.nih.gov/25125150Test