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1دورية أكاديمية
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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المؤلفون: Yumei Li, Paul A. Overbeek, Rui Chen, Graeme Mardon, Feng He, Theodore G. Wensel, Antrix Jain, Zhixian Zhang, Michael A. Robichaux, Thanh-Minh T. Nguyen, Ronald Roepman, Aiden Eblimit, Sung Yun Jung, Jun Qin, Rachayata Dharmat
المصدر: Journal of Cell Biology, 217, 2851-2865
Journal of Cell Biology, 217, 8, pp. 2851-2865
The Journal of Cell Biologyمصطلحات موضوعية: 0301 basic medicine, genetic structures, Cell Cycle Proteins, 030105 genetics & heredity, Biology, Ciliopathies, Article, Mice, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Antigens, Neoplasm, Microtubule, Genetic model, medicine, Animals, Eye Proteins, Cytoskeleton, Photoreceptor Connecting Cilium, Research Articles, Adaptor Proteins, Signal Transducing, Cilium, Nuclear Proteins, Signal transducing adaptor protein, Ciliary transition zone, Cell Biology, medicine.disease, eye diseases, Cell biology, DNA-Binding Proteins, Mice, Inbred C57BL, Cytoskeletal Proteins, Protein Transport, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, sense organs, Carrier Proteins
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ea896e6c6b39ccde9621cc7ef9404b
https://doi.org/10.1083/jcb.201712117 -
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المؤلفون: Gerard W. Dougherty, Victor L. Jensen, Jan Frederik Scheel, Katarzyna Szymanska, Uwe Wolfrum, Radek Szklarczyk, Miriam Schmidts, Julie Kennedy, Erwin van Wijk, Brunella Franco, Toby J. Gibson, Machteld M. Oud, Chunmei Li, Nils J. Lambacher, Erik de Vrieze, Grischa Toedt, Teunis J. P. van Dam, Karsten Boldt, Heymut Omran, Yves Texier, Rachel H. Giles, Ronald Roepman, Kirsten A. Wunderlich, Sylvia E. C. van Beersum, Oliver E. Blacque, Thanh-Minh T. Nguyen, Konstantinos Koutroumpas, Hannie Kremer, Nicola Horn, Martijn A. Huynen, Michel R. Leroux, Gabrielle Wheway, Rim Hjeij, Philip L. Beales, Gisela G. Slaats, Robert B. Russell, Robin van der Lee, François Képès, Yasmin Wissinger, Barbara Knapp, Dorus A. Mans, Suzanne Rix, Marius Ueffing, Colin A. Johnson, Stef J.F. Letteboer, Victor Hernandez-Hernandez, Qianhao Lu, Jeroen van Reeuwijk
المساهمون: Sub Bioinformatics, Theoretical Biology and Bioinformatics, MUMC+: DA KG Lab Centraal Lab (9), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, van Dam, Teunis J P, Kennedy, Julie, van der Lee, Robin, de Vrieze, Erik, Wunderlich, Kirsten A, Rix, Suzanne, Dougherty, Gerard W, Lambacher, Nils J, Li, Chunmei, Jensen, Victor L, Leroux, Michel R, Hjeij, Rim, Horn, Nicola, Texier, Yve, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F, Franco, Brunella, Mans, Dorus A, van Wijk, Erwin, Képès, Françoi, Slaats, Gisela G, Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantino, Ueffing, Mariu, Nguyen, Thanh-Minh T, Letteboer, Stef J F, Oud, Machteld M, van Beersum, Sylvia E C, Schmidts, Miriam, Beales, Philip L, Lu, Qianhao, Giles, Rachel H, Szklarczyk, Radek, Russell, Robert B, Gibson, Toby J, Johnson, Colin A, Blacque, Oliver E, Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, Huynen, Martijn A
المصدر: PLoS ONE
PLoS One, 14
PLoS One. Public Library of Science
PloS one
PLOS ONE
PLOS ONE, 14(5):0216705. Public Library of Science
PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
PLoS One, 14, 5مصطلحات موضوعية: Proteomics, Sensory Receptors, Nematoda, Social Sciences, Ciliopathies, Biochemistry, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Transcriptome, 0302 clinical medicine, Animal Cells, Psychology, RETINAL PHOTORECEPTOR CELLS, Exome, Neurons, 0303 health sciences, 030302 biochemistry & molecular biology, Eukaryota, Genomics, PRIMARY CILIUM, thecilium, 3. Good health, Nucleic acids, Genetic interference, Osteichthyes, Medicine, Epigenetics, Cellular Structures and Organelles, Cellular Types, proteomic databases, Sensory Receptor Cells, Science, education, Ciliary genes, LEBER CONGENITAL AMAUROSIS, 03 medical and health sciences, Genetics, Cilia, Caenorhabditis elegans, IDENTIFICATION, MUTATIONS, Embryos, cilia, Organisms, Biology and Life Sciences, Bayes Theorem, Molecular Sequence Annotation, medicine.disease, Invertebrates, Fish, ciliary proteome, Animal Studies, Caenorhabditis, Gene expression, embryos, 030217 neurology & neurosurgery, Developmental Biology, Neuroscience, Photoreceptors, Candidate gene, Embryology, Oligonucleotides, Morpholino, Database and Informatics Methods, RNA interference, Bayesian classifier, TRANSITION ZONE, Zebrafish, Antisense Oligonucleotides, Multidisciplinary, Spectrometric Identification of Proteins, Proteomic Databases, Nucleotides, Cilium, Stable Isotope Labeling by Amino Acids in Cell Culture, photoreceptors, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Animal Models, Phenotype, INTRAFLAGELLAR TRANSPORT, DIFFERENTIATION, Experimental Organism Systems, Caenorhabditis Elegans, Vertebrates, Sensory Perception, Research Article, Signal Transduction, EXPRESSION, Stable isotope labeling by amino acids in cell culture, Computational biology, Biology, Research and Analysis Methods, SOLUTE-CARRIER-PROTEIN, Model Organisms, medicine, Animals, data integration, 030304 developmental biology, Afferent Neurons, Reproducibility of Results, Cell Biology, zebrafish, biology.organism_classification, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Biological Databases, Cellular Neuroscience, RNA, OSCP1, CiliaCarta
وصف الملف: application/pdf; text; image/pdf
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المؤلفون: Richard T. Pon, Ryan E. Lamont, Uwe Wolfrum, Robert A. Hegele, Dan Doherty, Fiona Stewart, Martin McKibbin, Jay Shendure, Grischa Toedt, Colin E. Willoughby, Jillian S. Parboosingh, Clem Donahue, Kirsten A. Wunderlich, Lijia Huang, Marius Ueffing, Hannah M. Mitchison, Nasrin Sorusch, Teunis J. P. van Dam, Zakia Abdelhamed, Kym M. Boycott, Francois P. Bernier, Mohammed A. Aldahmesh, Subaashini Natarajan, Bernard N. Chodirker, Carole Ober, Julie Higgins, Matthew Adams, Darren C. Tomlinson, Hilary E. Racher, Thanh Minh T. Nguyen, Ian G. Phelps, Andreas Giessl, Katarzyna Szymanska, Ewan E. Morrison, Albert E. Chudley, Fowzan S. Alkuraya, Panagiotis I. Sergouniotis, Patrick Frosk, Jacquelyn Bond, Miriam Schmidts, Susanne Roosing, Nicola Horn, Gabrielle Wheway, Sandra M. Bell, Carmel Toomes, Toby J. Gibson, Martijn A. Huynen, Philip L. Beales, Gisela G. Slaats, Julie Kennedy, Clare V. Logan, Oliver E. Blacque, Paul M. K. Gordon, Rachel H. Giles, Heymut Omran, Aizeddin A. Mhanni, A. James Barkovich, David A. Parry, A. Micheil Innes, Dorus A. Mans, Jeroen van Reeuwijk, Kristin Kessler, Louis Wolf, Shamsa Anazi, Evan A. Boyle, Karsten Boldt, Ronald Roepman, Joseph G. Gleeson, Andrew R. Webster, Selwa A. Al Hazzaa, Chris F. Inglehearn, Warren Herridge, Christian Thiel, Chandree L. Beaulieu, Colin A. Johnson, Stef J.F. Letteboer
المصدر: Nature cell biology
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology, 17, 1074-87
Nature Cell Biology, 17(8), 1074. Nature Publishing Groupمصطلحات موضوعية: PRPF31, Pregnancy Proteins, Inbred C57BL, Ciliopathies, Mice, Immunologic, Cerebellum, Databases, Genetic, Eye Abnormalities, Non-U.S. Gov't, Zebrafish, Exome sequencing, Mice, Knockout, Genetics, Research Support, Non-U.S. Gov't, Cilium, High-Throughput Nucleotide Sequencing, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, Kidney Diseases, Cystic, Phenotype, Kidney Diseases, RNA Interference, Abnormalities, Multiple, Functional genomics, Ciliary Motility Disorders, Genetic Markers, Ellis-Van Creveld Syndrome, Knockout, Jeune syndrome, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Biology, Research Support, Transfection, Retina, Article, whole-genome siRNA screen, Joubert syndrome, N.I.H, Databases, Cystic, reverse genetics, Research Support, N.I.H., Extramural, Genetic, Cerebellar Diseases, Ciliogenesis, Suppressor Factors, Journal Article, Suppressor Factors, Immunologic, medicine, Animals, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Photoreceptor Cells, Cilia, Genetic Testing, Caenorhabditis elegans, Extramural, Membrane Proteins, Proteins, Reproducibility of Results, Cell Biology, medicine.disease, Mice, Inbred C57BL, Cytoskeletal Proteins, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], HEK293 Cells, Mutation, ciliopathies, Genome-Wide Association Study
وصف الملف: image/pdf
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المؤلفون: Helger G. Yntema, Erwin van Wijk, Ellen A.W. Blokland, Frans P.M. Cremers, Lisette Hetterschijt, Erik de Vrieze, Sarah Hull, Ronald Roepman, Gavin Arno, Thanh-Minh T. Nguyen, Lonneke Haer-Wigman, Paul A. van der Zwaag, Andrew R. Webster, Stef J.F. Letteboer, Machteld M. Oud, Sylvia E. C. van Beersum, L. Ingeborgh van den Born
المصدر: Journal of Medical Genetics, 54, 624-632
Journal of Medical Genetics, 54, 9, pp. 624-632
JOURNAL OF MEDICAL GENETICS, 54(9), 624-632. BMJ PUBLISHING GROUPمصطلحات موضوعية: 0301 basic medicine, CAUSE JOUBERT-SYNDROME, GENOTYPE-PHENOTYPE CORRELATION, LEBER CONGENITAL AMAUROSIS, PROTEIN, 030105 genetics & heredity, Biology, Compound heterozygosity, DIAGNOSIS, Ciliopathies, RETINAL DYSTROPHY, DISEASE, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, Intraflagellar transport, Retinitis pigmentosa, NEPHROCYSTIN-4, Genetics, medicine, Missense mutation, Genetics (clinical), Exome sequencing, Cilium, LOCALIZATION, medicine.disease, GENE, 030104 developmental biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Ciliary base
وصف الملف: application/pdf
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المؤلفون: Thanh-Minh T, Nguyen, Sarah, Hull, Ronald, Roepman, L Ingeborgh, van den Born, Machteld M, Oud, Erik, de Vrieze, Lisette, Hetterschijt, Stef J F, Letteboer, Sylvia E C, van Beersum, Ellen A, Blokland, Helger G, Yntema, Frans P M, Cremers, Paul A, van der Zwaag, Gavin, Arno, Erwin, van Wijk, Andrew R, Webster, Lonneke, Haer-Wigman
المصدر: Journal of Medical Genetics
مصطلحات موضوعية: Adult, Male, Mutation, Missense, AHI1, non-syndromic retinitis pigmentosa, Kidney Diseases, Cystic, Middle Aged, Retina, Pedigree, Adaptor Proteins, Vesicular Transport, Protein Domains, Cerebellum, Humans, Abnormalities, Multiple, Female, WD40 domain, Eye Abnormalities, New Disease Loci, Jouberin, exome sequencing, Retinitis Pigmentosa, Adaptor Proteins, Signal Transducing
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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac9648690ddc5f24128e24ac4e0cf2c1
https://pubmed.ncbi.nlm.nih.gov/25398945 -
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المؤلفون: Detlef Bockenhauer, Valeska Frank, Jan Halbritter, Albrecht Kramer-Zucker, Edgar A. Otto, Gerd Walz, Marius Ueffing, Emilie Filhol, Daniel Epting, Friedhelm Hildebrandt, Nicola Horn, Søren Rittig, Troels Ring, Martin Helmstädter, Christoph Schell, Mariet W. Elting, Mogens Vyberg, Tobias B. Huber, Martin Pohl, Florian Grahammer, Jeroen van Reeuwijk, Sophie Saunier, Karsten Boldt, Christopher Boehlke, Sylvia Hoff, Neveen A. Soliman Elshakhs, Ronald Roepman, Thomas J. Neuhaus, E. Wolfgang Kuehn, Miriam Mergen, Soeren S. Lienkamp, Sarah J. Koon, Neil J. Sebire, Hanno J. Bolz, Tobias Eisenberger, Lars Pape, Thanh-Minh T. Nguyen, Takayuki Yasunaga, Joanna A.E. van Wijk, Peter C. Harris, Carsten Bergmann
المساهمون: Human genetics, Pediatric surgery, ICaR - Circulation and metabolism
المصدر: Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T-M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstädter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-6 . https://doi.org/10.1038/ng.2681
Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T-M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstädter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-956 . https://doi.org/10.1038/ng.2681
Nature Genetics, 45, 951-956
Nature genetics
Nature Genetics, 45, 8, pp. 951-956
Nature Genetics; Vol 45
Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstadter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-956 . https://doi.org/10.1038/ng.2681
Nature Genetics, 45(8), 951-956. Nature Publishing Groupمصطلحات موضوعية: NEK8, Genetics and epigenetic pathways of disease [NCMLS 6], Xenopus, Kinesins, Biology, Ciliopathies, Article, 03 medical and health sciences, Cystic kidney disease, Consanguinity, Mice, 0302 clinical medicine, Nephronophthisis, Genetics, Polycystic kidney disease, medicine, NIMA-Related Kinases, Animals, Humans, Cilia, Protein Interaction Maps, Zebrafish, 030304 developmental biology, 0303 health sciences, Polycystic Kidney Diseases, Cilium, Nuclear Proteins, Exons, Kinesin, Kidney Diseases, Cystic, Zebrafish Proteins, biology.organism_classification, medicine.disease, Introns, Protein Transport, Phenotype, 030220 oncology & carcinogenesis, Gene Knockdown Techniques, Mutation, Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6], Protein Kinases, Protein Binding, Transcription Factors
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المؤلفون: S.E.C. van Beersum, Jason R. Willer, Marius Ueffing, Karsten Boldt, Konstantinos Koutroumpas, Ronald Roepman, François Képès, Robert B. Russell, Thanh Minh T. Nguyen, Nicholas Katsanis, Yves Texier, J. van Reeuwijk, Nicola Horn, Qianhao Lu
المصدر: Cilia
مصطلحات موضوعية: Functional protein, Poster Presentation, Cellular homeostasis, Cell Biology, Computational biology, Biology, Proteomics, Ciliopathies, Phenotype, Gene, Function (biology), Human genetics
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المؤلفون: David A. Parry, Colin A. Johnson, Clare V. Logan, Katarzyna Szymanska, G. Tödt, Dorus A. Mans, Karsten Boldt, Uwe Wolfrum, Ronald Roepman, Dan Doherty, Warren Herridge, Nasrin Sorusch, Zakia Abdelhamed, Subaashini Natarajan, Thanh-Minh T. Nguyen, Miriam Schmidts, Kirsten A. Wunderlich, Marius Ueffing, Hannah M. Mitchison, Gabrielle Wheway
المصدر: Europe PubMed Central
Ciliaمصطلحات موضوعية: Genetics, Candidate gene, PRPF31, Cilium, Cell Biology, Biology, medicine.disease, Ciliopathies, Human genetics, Ciliopathy, Ciliogenesis, medicine, Oral Presentation, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b20feeca13181960aa1924a56e3bd580
http://europepmc.org/abstract/PMC/PMC4519065