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المؤلفون: Teun M. Klein Gunnewiek, Maria Rosaria Vitale, Brooke L. Latour, Sophie Jansen, Nael Nadif Kasri, Jon-Ruben van Rhijn, Dirk Schubert, Eline J.H. van Hugte, Martijn Selten, Jitske Bak, Anouk H.A. Verboven, Alessia Anania, Ilse M. van der Werf, Katrin Linda, Klaus-Peter Lesch, Johanna E. M. Zöller, Hans van Bokhoven, Chantal Schoenmaker, Moritz Negwer, Britt Mossink, Monica Frega, Jason M. Keller, Shan Wang, Astrid R. Oudakker
المساهمون: Clinical Neurophysiology, TechMed Centre, Psychiatrie & Neuropsychologie, RS: MHeNs - R3 - Neuroscience
المصدر: Molecular Psychiatry, 27, 1-18
Molecular Psychiatry, 27, 1-18. Nature Publishing Group
Mol Psychiatry
Molecular Psychiatry, 27, 1, pp. 1-18
Molecular Psychiatry, 27(1), 1-18. Nature Publishing Groupمصطلحات موضوعية: INTERNEURONS, 0301 basic medicine, Integrins, Induced Pluripotent Stem Cells, Population, INHIBITION, Regulator, ADHESION, Inhibitory postsynaptic potential, 03 medical and health sciences, Cellular and Molecular Neuroscience, Glutamatergic, 0302 clinical medicine, Humans, TRANSCRIPTION FACTOR, GABAergic Neurons, GENOME-WIDE ASSOCIATION, FUNCTIONAL MATURATION, AUTISM, Induced pluripotent stem cell, education, Molecular Biology, education.field_of_study, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], RECEPTOR, biology, IMBALANCE, Cadherins, Psychiatry and Mental health, Parvalbumins, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Synapses, T-CADHERIN, biology.protein, GABAergic, Stem cell, Neuroscience, 030217 neurology & neurosurgery, Parvalbumin
وصف الملف: application/pdf
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المؤلفون: Sylvia E. C. van Beersum, Stephan C.F. Neuhauss, Jeroen van Reeuwijk, Fowzan S. Alkuraya, Mostafa Asadollahi, Julie C. Van De Weghe, Marius Ueffing, Manali Chitre, Dan Doherty, Arezou Karamzade, Caitlin V. Miller, Stef J.F. Letteboer, Tamara D.S. Rusterholz, Michael J. Bamshad, Megan E. Grout, Ruxandra Bachmann-Gagescu, Matthias Gesemann, Heba Morsy, Karsten Boldt, Ronald Roepman, John A. Sayer, Miguel Barroso-Gil, Jennifer C. Dempsey, Ranad Shaheen, Arianna Gomez, Brooke L. Latour, Mohammad Keramatipour, Deborah A. Nickerson
المساهمون: University of Zurich
المصدر: Journal of Clinical Investigation, 130, 8, pp. 4423-4439
J Clin Invest
Journal of Clinical Investigation, 130, 4423-4439مصطلحات موضوعية: 0301 basic medicine, 10039 Institute of Medical Genetics, Hindbrain, Joubert syndrome, Retina, 03 medical and health sciences, 0302 clinical medicine, Microtubule, Cerebellum, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Polyglutamylation, Zebrafish, Armadillo Domain Proteins, biology, Cilium, Acetylation, General Medicine, Kidney Diseases, Cystic, Zebrafish Proteins, medicine.disease, biology.organism_classification, 10124 Institute of Molecular Life Sciences, Cell biology, Ciliopathy, Disease Models, Animal, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030220 oncology & carcinogenesis, Armadillo repeats, 570 Life sciences, CRISPR-Cas Systems, Peptides, Research Article
وصف الملف: application/pdf; 131656.1-20200519151036_Dysfunction.pdf - application/pdf
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المؤلفون: Marius Ueffing, Arianna Gomez, Ranad Shaheen, Karsten Boldt, Matthias Gesemann, Stephan C.F. Neuhauss, Ronald Roepman, Tamara D.S. Rusterholz, Julie C. Van De Weghe, Deborah A. Nickerson, Brooke L. Latour, Stef J.F. Letteboer, Fowzan S. Alkuraya, Sylvia E. C. van Beersum, Heba Morsy, Jennifer C. Dempsey, Ruxandra Bachmann-Gagescu, Caitlin V. Miller, Michael J. Bamshad, Megan E. Grout, Jeroen van Reeuwijk, Dan Doherty
مصطلحات موضوعية: 0303 health sciences, Cilium, Hindbrain, Biology, medicine.disease, biology.organism_classification, Joubert syndrome, Cell biology, 03 medical and health sciences, Ciliopathy, 0302 clinical medicine, Organelle, medicine, CRISPR, Zebrafish, 030217 neurology & neurosurgery, Function (biology), 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ff3bec0b33061a35d6e48edf26e7fe
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المؤلفون: Deborah A. Nickerson, Yong-Han H. Cheng, Talal AlAnzi, Matthias Gesemann, Tamara D.S. Rusterholz, Ranad Shaheen, Ruxandra Bachmann-Gagescu, Michael J. Bamshad, Ian G. Phelps, Megan E. Grout, Arif O. Khan, Kimberly A. Aldinger, Julie C. Van De Weghe, Stephan C.F. Neuhauss, Rifaat Rawashdeh, Jennifer C. Dempsey, Ronald Roepman, Fowzan S. Alkuraya, Sateesh Maddirevula, Dan Doherty, Himanshu Goel, Brooke L. Latour, Ohad S. Birk, William B. Dobyns
المساهمون: University of Zurich, Bachmann-Gagescu, Ruxandra
المصدر: American Journal of Human Genetics, 101, 23-36
American Journal of Human Genetics, 101, 1, pp. 23-36مصطلحات موضوعية: 0301 basic medicine, Diagnostic Imaging, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, Biology, Ciliopathies, Joubert syndrome, Retina, Article, 03 medical and health sciences, 1311 Genetics, Ciliogenesis, Cerebellum, Genetics, medicine, Animals, Humans, Genetics(clinical), Abnormalities, Multiple, Exome, Genetic Predisposition to Disease, Cilia, Eye Abnormalities, Genetics (clinical), Zebrafish, Armadillo Domain Proteins, Polydactyly, Base Sequence, Cilium, Brain, Sequence Analysis, DNA, Kidney Diseases, Cystic, Zebrafish Proteins, medicine.disease, 10124 Institute of Molecular Life Sciences, Hypotonia, Synpolydactyly, Basal Bodies, Up-Regulation, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Phenotype, Mutation, 570 Life sciences, biology, medicine.symptom
وصف الملف: 2017_Van_de_Weghe_1-s2.0-S0002929717301970-main.pdf - application/pdf; 2017_VandenWeghe_Bachmann_AJHG2017_ZORA.PDF - application/pdf
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المؤلفون: Sau Wai Cheung, Usha Kini, Han G. Brunner, Rolph Pfundt, Ronald Roepman, V. Reid Sutton, Lachlan A. Jolly, Jozef Gecz, Helena Malmgren, Deepti Domingo, Brooke L. Latour, Ka Man Wu, Emma Hobson, Maaike Vreeburg, Christian Gilissen, Carlo M. Marcelis, Bruno Reversade, Pilar L. Magoulas, Tjitske Kleefstra, Angela Barnicoat, Sue Price, Vasilios Zachariadis, Margot R.F. Reijnders, Hermine E. Veenstra-Knol, Jiin Ying Lim, Conny M. A. van Ravenswaaij-Arts, Nicola S. Cooper, Frank J. Probst, G. M. S. Mancini, Arja Harila-Saari, Alice S. Brooks, Ann Nordgren, Britt-Marie Anderlid, Stephen A. Wood, Zornitza Stark, Julie Vogt, Angeline Hwei Meeng Lai
المساهمون: Clinical Genetics, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Center for Reproductive Medicine, Genetica & Celbiologie, MUMC+: DA KG Polikliniek (9), MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine
المصدر: American Journal of Human Genetics, 98(2), 373-381. Cell Press
American Journal of Human Genetics, 98(2), 373-381. CELL PRESS
American Journal of Human Genetics, 98, 373-81
American journal of human genetics, 98(2), 373-381. Cell Press
American Journal of Human Genetics, 98, 2, pp. 373-81مصطلحات موضوعية: 0301 basic medicine, Developmental Disabilities, Choanal atresia, medicine.disease_cause, FAT-FACETS GENE, BETA-CATENIN, 0302 clinical medicine, Genes, X-Linked, X Chromosome Inactivation, Genetics(clinical), 10. No inequality, Child, Genetics (clinical), Genetics, Mutation, Polydactyly, Cilium, Phenotype, Child, Preschool, Female, DEUBIQUITYLATING ENZYME, medicine.symptom, Ubiquitin Thiolesterase, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, Adolescent, DISORDERS, Molecular Sequence Data, INTERACTS, Biology, Short stature, Choanal Atresia, 03 medical and health sciences, Young Adult, X-CHROMOSOME INACTIVATION, Internal medicine, Intellectual Disability, Report, medicine, Humans, Genetic Testing, LINKED INTELLECTUAL DISABILITY, Loss function, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Base Sequence, medicine.disease, Ciliopathy, DEUBIQUITINATING ENZYME, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Endocrinology, FAM/USP9X, EXPRESSION ANALYSIS, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::029e2e9aac3680c2c0afef98c3c0ae88
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المؤلفون: Helger G. Yntema, Zeineb Bakey, Machteld M. Oud, Ernie M.H.F. Bongers, Ronald Roepman, Stef J.F. Letteboer, Brooke L. Latour, Elisabeth A.M. Cornelissen, Ka Man Wu, Dorien Lugtenberg, Miriam Schmidts
المصدر: Cilia, 7, pp. 1
Cilia, 7, 1
Ciliaمصطلحات موضوعية: 0301 basic medicine, Candidate gene, Pathology, medicine.medical_specialty, Short Report, SRTD9, Biology, Compound heterozygosity, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, Intraflagellar transport, IFT140, medicine, Ciliary tip, Genetic testing, Mutation, medicine.diagnostic_test, Mainzer–Saldino syndrome, Cilium, Cell Biology, medicine.disease, 3. Good health, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, MZSDS, UREC, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c11535d1d0f24dc6d774cc60b204a9
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