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1Academic Journal
المؤلفون: Emma Dyke, Chantal Bijnagte-Schoenmaker, Ka Man Wu, Astrid Oudakker, Ronald Roepman, Nael Nadif Kasri
المصدر: Stem Cell Research, Vol 68, Iss , Pp 103053- (2023)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Shan Wang, Jon-Ruben van Rhijn, Ibrahim Akkouh, Naoki Kogo, Nadine Maas, Anna Bleeck, Irene Santisteban Ortiz, Elly Lewerissa, Ka Man Wu, Chantal Schoenmaker, Srdjan Djurovic, Hans van Bokhoven, Tjitske Kleefstra, Nael Nadif Kasri, Dirk Schubert
المصدر: Cell Reports, Vol 39, Iss 5, Pp 110790- (2022)
مصطلحات موضوعية: CP: Neuroscience, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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4Academic Journal
المؤلفون: Sebiha Cevik, Anna A W M Sanders, Erwin Van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I Kaplan, Sylvia E C van Beersum, Ka Man Wu, Stef J F Letteboer, Dorus A Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E Blacque
المصدر: PLoS Genetics, Vol 9, Iss 12, p e1003977 (2013)
وصف الملف: electronic resource
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5
المؤلفون: Eline J.H. van Hugte, Elly I. Lewerissa, Ka Man Wu, Giulia Parodi, Torben van Voorst, Naoki Kogo, Jason M. Keller, Dirk Schubert, Helenius J. Schelhaas, Judith Verhoeven, Marian Majoie, Hans van Bokhoven, Nael Nadif Kasri
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6
المؤلفون: Shan Wang, Jon-Ruben van Rhijn, Ibrahim Akkouh, Naoki Kogo, Nadine Maas, Anna Bleeck, Irene Santisteban Ortiz, Elly Lewerissa, Ka Man Wu, Chantal Schoenmaker, Srdjan Djurovic, Hans van Bokhoven, Tjitske Kleefstra, Nael Nadif Kasri, Dirk Schubert
المصدر: SSRN Electronic Journal.
مصطلحات موضوعية: History, Polymers and Plastics, Business and International Management, Industrial and Manufacturing Engineering
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7
المؤلفون: Heleen H. Arts, Teppo Varilo, Michele Pinelli, K.L.I. van Gassen, Christian Gilissen, Irma Järvelä, Ronald Roepman, Sergio Cocozza, Aki Mustonen, Giovanni Scala, S. Raza, Tuomo Määttä, Anju K. Philips, Ka Man Wu, Jukka S. Moilanen, C.I. de Bie
المصدر: Clinical Genetics. 91:100-105
مصطلحات موضوعية: 0301 basic medicine, Genetics, Consanguinity, medicine.disease, 3. Good health, Frameshift mutation, 03 medical and health sciences, Autosomal recessive trait, 030104 developmental biology, Intellectual disability, medicine, Missense mutation, Exome, Genetics (clinical), Exome sequencing, Founder effect
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المؤلفون: Michelle Peckham, Karl Gaff, Alistair Curd, Martijn A. Huynen, Oliver E. Blacque, Ka Man Wu, Colin A. Johnson, Laurence Faivre, Rachel H. Giles, Diane Doummar, Nils J. Lambacher, Tania Attié-Bitach, Lydie Burglen, Gisela G. Slaats, Christel Thauvin-Robinet, Ange-Line Bruel, Gavin J. McManus, Katarzyna Szymanska, Sophie Saunier, Julie Kennedy, Teunis J. P. van Dam, Robin van der Lee, Jean-Baptiste Rivière, Stefanie Kuhns
المساهمون: School of Biology & Environmental Science and Conway Institute of Biomolecular & Biomedical Research, University College Dublin, University College Dublin [Dublin] ( UCD ), Génétique des Anomalies du Développement ( GAD ), Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Radboud University Medical Center [Nijmegen], Leeds Institute of Biomedical & Clinical Sciences ( LIBACS ), University of Leeds, University Medical Center [Utrecht], Service de neuropédiatrie et pathologie du développement, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Service de Génétique et d'Embryologie Médicale, Service de neuropédiatrie [Trousseau], CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Proteome Research Centre, UCD Conway Institute for Biomolecular and Biomedical Research, European Community's Seventh Framework Programme 241955 Science Foundation Ireland 11/PI/1037 Dutch Kidney Foundation CP11.18 GIS-Institut des Maladies Rares French Fondation for Rare Disease Virgo consortium FE50908 Netherlands Genomics Initiative 050-060-452 French Ministry of Health (PHRC national) 2010-A01014-35 Fondation pour la Recherche Medicale DEQ20130326532 Regional Council of Burgundy Sir Jules Thorn Award for Biomedical Research JTA/09 UK Medical Research Council MR/K011154/1 MR1K015613/1 Lung GO Sequencing Project HL-102923 WHI Sequencing Project HL-102924 Broad GO Sequencing Project HL-102925 Seattle GO Sequencing Project HL-102926 Heart GO Sequencing Project HL-103010 University of Leeds, University College Dublin [Dublin] (UCD), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Leeds Institute of Biomedical & Clinical Sciences (LIBACS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: Nature Cell Biology, 18, 122-31
Nature Cell Biology
Nature Cell Biology, Nature Publishing Group, 2016, 18 (1), pp.122-131. 〈10.1038/ncb3273〉
Nature Cell Biology, Nature Publishing Group, 2016, 18 (1), pp.122-131. ⟨10.1038/ncb3273⟩
Nature Cell Biology, 18, 1, pp. 122-31مصطلحات موضوعية: 0301 basic medicine, Biology, Research Support, nephrocystins, Joubert syndrome, Retina, Article, 03 medical and health sciences, Nephronophthisis, Ciliogenesis, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Cerebellum, evolution, medicine, Journal Article, Animals, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Non-U.S. Gov't, membrane, Cilium, c. elegans, Research Support, Non-U.S. Gov't, Ciliary transition zone, Membrane Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Cell Biology, Kidney Diseases, Cystic, medicine.disease, mutations, Cell biology, Ciliopathy, caenorhabditis-elegans, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Membrane protein, transport, Ciliary base, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, complex, ciliogenesis, primary cilium
وصف الملف: image/pdf; application/pdf
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المؤلفون: Machteld M. Oud, C. Anthony Rupar, Victoria Mok Siu, Ronald Roepman, Dorus A. Mans, Alvin Yu Jin Ng, Bruno Reversade, Ascia Eskin, Carine Bonnard, Gregory J. Pazour, Byrappa Venkatesh, Umut Altunoglu, Hane Lee, Nathalie P. de Wagenaar, Heleen H. Arts, Ka Man Wu, Sumanty Tohari, Hülya Kayserili, Robert A. Hegele, Piya Lahiry, Stanley F. Nelson
المساهمون: Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Oud, M.M., Bonnard, C., Mans, D.A., Altunoğlu, U., Tohari, S., Ng, A.Y.J., Eskin, A., Lee, H., Rupar, C.A., Wagenaar, N.P., Wu, K.M., Lahiry, P., Pazour, G.J., Nelson, S.F., Hegele, R.A., Roepman, R, Venkatesh, B., Siu, V.M., Reversade, B., Arts, H.H., School of Medicine, Department of Medical Genetics
المصدر: Cilia
Paediatrics Publications
Cilia, 5, pp. 8
Cilia, 5, 8مصطلحات موضوعية: 0301 basic medicine, Ciliopathy, Hydrolethalus syndrome, Short-rib thoracic dysplasia syndrome, Endocrine-cerebro-osteodysplasia syndrome, ECO, Intestinal cell kinase, ICK, SRTD, Ciliary defects, 030105 genetics & heredity, Biology, 03 medical and health sciences, Ciliogenesis, parasitic diseases, medicine, Ciliary tip, Genetics, Medicine, Medical genetics, Polydactyly, Cilium, Research, Cell Biology, medicine.disease, Molecular biology, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Ciliary base
وصف الملف: application/pdf; pdf
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المؤلفون: Julian Esteve-Rudd, Stef J.F. Letteboer, Graeme Mardon, Yalda Moayedi, Huidan Xu, Thanh Minh T. Nguyen, Yumei Li, Aiden Eblimit, David L. Simons, Ronald Roepman, Ka Man Wu, Samuel M. Wu, Rui Chen, David S. Williams, Lin Gan, Sylvia E. C. van Beersum, Yiyun Chen, Qian Ding, Hua Zhong, Patrick Pickard, Jeroen van Reeuwijk, Keqing Wang
المصدر: Human Molecular Genetics, 24, 6, pp. 1584-601
Human molecular genetics, vol 24, iss 6
Human Molecular Genetics, 24, 1584-601مصطلحات موضوعية: genetic structures, Apoptosis, Neurodegenerative, Eye, Medical and Health Sciences, chemistry.chemical_compound, Mice, Retinal Rod Photoreceptor Cells, 2.1 Biological and endogenous factors, Aetiology, Genetics (clinical), Pediatric, Genetics & Heredity, biology, Cilium, General Medicine, Retinitis pigmentosa GTPase regulator, Articles, Biological Sciences, Transport protein, Cell biology, Mutant Strains, DNA-Binding Proteins, Protein Transport, medicine.anatomical_structure, Rhodopsin, Retinal Cone Photoreceptor Cells, medicine.medical_specialty, Rare Diseases, Internal medicine, Retinitis pigmentosa, Genetics, medicine, Animals, Humans, Eye Disease and Disorders of Vision, Molecular Biology, Photoreceptor Connecting Cilium, Retina, Neurosciences, Proteins, Retinal, medicine.disease, eye diseases, Mice, Mutant Strains, Ciliopathy, Cytoskeletal Proteins, Orphan Drug, Endocrinology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], chemistry, biology.protein, Cattle, sense organs, Gene Deletion
وصف الملف: application/pdf
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11Academic JournalA novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
المؤلفون: Oud, Machteld M., Bonnard, Carine, Mans, Dorus A., Altunoglu, Umut, Tohari, Sumanty, Jin Ng, Alvin Yu, Eskin, Ascia, Lee, Hane, Rupar, C. Anthony, de Wagenaar, Nathalie P., Ka Man Wu, Lahiry, Piya, Pazour, Gregory J., Nelson, Stanley F., Hegele, Robert A., Roepman, Ronald, Kayserili, Hülya, Venkatesh, Byrappa, Siu, Victoria M., Reversade, Bruno
المصدر: Cilia; 4/11/2016, Vol. 5, p1-11, 11p
مصطلحات موضوعية: CILIARY body, ENDOCRINE diseases, KINASES
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12
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
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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
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