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1دورية أكاديمية
المؤلفون: Lucinda C.D. Blackshaw, Eric P.F. Chow, Rick Varma, Loretta Healey, David J. Templeton, Ashna Basu, Dane Turner, Nick A. Medland, Suzanne Rix, Christopher K. Fairley, Marcus Y. Chen
المصدر: Australian and New Zealand Journal of Public Health, Vol 43, Iss 5, Pp 424-428 (2019)
مصطلحات موضوعية: HIV, HIV testing, men who have sex with men, migrant, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen
المصدر: PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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المؤلفون: Rick Varma, Anna McNulty, Suzanne Rix, N B Comninos
المصدر: International journal of STDAIDS. 30(14)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Treatment outcome, Human immunodeficiency virus (HIV), MEDLINE, Pain, Chlamydia trachomatis, Dermatology, Disease, medicine.disease_cause, Pre-exposure prophylaxis, Internal medicine, HIV Seropositivity, medicine, Humans, Pharmacology (medical), Homosexuality, Male, Ulcer, business.industry, Lymphogranuloma venereum, Public Health, Environmental and Occupational Health, medicine.disease, Hiv seropositivity, Anti-Bacterial Agents, Genital ulcer, Infectious Diseases, Treatment Outcome, Doxycycline, Lymphogranuloma Venereum, Pre-Exposure Prophylaxis, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a24d4bc31771f23f0ae450f2bb32fcbd
https://pubmed.ncbi.nlm.nih.gov/31757192 -
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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: Suzanne Rix, Jack E. Heron, Rick Varma, David M. Gracey
المصدر: Sexual Health. 17:299
مصطلحات موضوعية: medicine.medical_specialty, 030505 public health, Proteinuria, business.industry, Public Health, Environmental and Occupational Health, Human immunodeficiency virus (HIV), Fanconi syndrome, Renal function, Pharmaceutical Benefits Scheme, medicine.disease_cause, medicine.disease, Emtricitabine, 03 medical and health sciences, 0302 clinical medicine, Infectious Diseases, Acquired immunodeficiency syndrome (AIDS), Internal medicine, medicine, 030212 general & internal medicine, medicine.symptom, 0305 other medical science, business, Kidney disease, medicine.drug
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المؤلفون: Christian Decker, Albane A Bizet, Miriam Schmidts, Theresa Neuhann, Amira Peco-Antic, Sophie Saunier, Radovan Bogdanovic, Philip L. Beales, Valeska Frank, Dinu Antony, Eamonn R. Maher, Matthew E. Hurles, Jane Hartley, Tobias Vinke, Tobias Eisenberger, Natalia Di Donato, Marija Guc-Scekic, Martin Bald, Ivana Joksic, Suzanne Rix, Jelena Dobričić, Christoph J. Mache, Saeed Al Turki, Gregory J. Pazour, Burkhard Toenshoff, Nadine Bachmann, Peter J. Scambler, Hanno J. Bolz, Mirjana Branković-Magić, Hannah M. Mitchison, Carsten Bergmann
المصدر: Human Mutation. 34:714-724
مصطلحات موضوعية: Male, Cerebellar Ataxia, Biology, Ciliopathies, Article, Cohort Studies, Mice, 03 medical and health sciences, 0302 clinical medicine, Nephronophthisis, Intraflagellar transport, Genetics, medicine, Animals, Humans, Exome, Cilia, Child, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Genetic heterogeneity, Cilium, Biological Transport, medicine.disease, Ciliopathy, Mutation, Disease Progression, Kidney Diseases, Retinitis Pigmentosa, 030217 neurology & neurosurgery
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المؤلفون: Suzanne Rix, Peter J. Scambler, Philip L. Beales, Amelie Calmont
المصدر: Human Molecular Genetics; Vol 20
مصطلحات موضوعية: medicine.medical_specialty, Transcription, Genetic, Short Rib-Polydactyly Syndrome, Biology, Mice, 03 medical and health sciences, 0302 clinical medicine, Intraflagellar transport, Ciliogenesis, Internal medicine, GLI3, Genetics, medicine, Animals, Humans, Hedgehog Proteins, Cilia, 10. No inequality, Molecular Biology, Hedgehog, Cells, Cultured, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Short rib – polydactyly syndrome, Polydactyly, Cilium, Articles, General Medicine, Fibroblasts, medicine.disease, Mice, Mutant Strains, Hedgehog signaling pathway, Cell biology, Disease Models, Animal, Endocrinology, Carrier Proteins, 030217 neurology & neurosurgery, Signal Transduction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c6bf0bd7b395e5184f39e14520f131a
https://doi.org/10.1093/hmg/ddr013 -
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المؤلفون: Daniel J. Jagger, Andrew Forge, Suzanne Rix, Helen May-Simera, Alison Ross, Philip L. Beales
المصدر: The Journal of comparative neurology. 514(2)
مصطلحات موضوعية: Electron Microscope Tomography, Stereocilia (inner ear), Group II Chaperonins, Kinesins, Cell Cycle Proteins, Biology, Gene mutation, In Vitro Techniques, Microtubules, Mice, Tubulin, Ciliogenesis, Two-Hybrid System Techniques, Chlorocebus aethiops, medicine, Basal body, Animals, Humans, Immunoprecipitation, Neurons, Afferent, Cytoplasmic microtubule, Cochlea, Cells, Cultured, Centrosome, Mammals, Mice, Knockout, General Neuroscience, Cilium, Gene Expression Regulation, Developmental, Cell biology, Rats, medicine.anatomical_structure, Hair cell, Microtubule-Associated Proteins, Molecular Chaperones
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المؤلفون: Norann A. Zaghloul, Richard A. Lewis, Carmen C. Leitch, Wafaa Eyaid, Eyal Banin, Hélène Dollfus, Erica E. Davis, Majid Alfadhel, Philip L. Beales, Nicholas Katsanis, Jose L. Badano, Anna Diaz-Font, Suzanne Rix, Corinne Stoetzel
المساهمون: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (JHU), Center for Human Disease Modeling, Duke University [Durham], Génétique Médicale, Université Louis Pasteur - Strasbourg I-AVENIR-Inserm, Molecular Medicine Unit, University College of London [London] (UCL), Department of Pediatrics, King Fahad Hospital, Departments of Ophthalmology, Molecular and Human Genetics, Pediatrics, and Medicine, Baylor College of Medicine (BCM), Baylor University-Baylor University, Department of Ophthalmology, Hadassah-Hebrew University Hospital, Molecular and Human Genetics / Genética Molecular Humana [Montevideo], Institut Pasteur de Montevideo, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Molecular Human Genetics Laboratory, IP Montevideo (GMH)
المصدر: Nature Genetics
Nature Genetics, Nature Publishing Group, 2008, 40 (4), pp.443-8. ⟨10.1038/ng.97⟩مصطلحات موضوعية: MESH: Neoplasm Proteins, BBS2, Male, Embryo, Nonmammalian, BBS1, MESH: Sequence Homology, Amino Acid, DNA Mutational Analysis, BBS10, MESH: Antigens, Neoplasm, MESH: Gastrulation, Cell Cycle Proteins, MESH: Amino Acid Sequence, MESH: Pregnancy, 0302 clinical medicine, MESH: Bardet-Biedl Syndrome, Pregnancy, MESH: Child, MESH: Proteins, MESH: Syndrome, MESH: Animals, MESH: DNA Mutational Analysis, Child, Zebrafish, Encephalocele, Genetics, 0303 health sciences, MESH: Alternative Splicing, Homozygote, Syndrome, Neoplasm Proteins, Pedigree, Child, Preschool, BBS12, Female, MESH: Membrane Proteins, MESH: Homozygote, Adult, congenital, hereditary, and neonatal diseases and abnormalities, MESH: Mutation, MESH: Pedigree, Molecular Sequence Data, Biology, Joubert syndrome, 03 medical and health sciences, Bardet–Biedl syndrome, Antigens, Neoplasm, medicine, Animals, Humans, Amino Acid Sequence, MESH: Zebrafish, Bardet-Biedl Syndrome, 030304 developmental biology, Meckel-Gruber Syndrome, MESH: Humans, MESH: Molecular Sequence Data, Sequence Homology, Amino Acid, MESH: Child, Preschool, Gastrulation, MESH: Encephalocele, MESH: Embryo, Nonmammalian, Membrane Proteins, Proteins, MESH: Adult, medicine.disease, MESH: Male, nervous system diseases, Alternative Splicing, Cytoskeletal Proteins, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, MESH: Female, 030217 neurology & neurosurgery
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المؤلفون: Chiara Bacchelli, Masazumi Tada, Colin A. Johnson, Melita Irving, Beyhan Tüysüz, Masatake Kai, Chad G. Pearson, Elizabeth Bland, Peter J. Scambler, Philip L. Beales, Suzanne Rix, Mark Winey, Nursel Elcioglu, Josephine Hill, Jonathan L. Tobin, Jane Hartley
المصدر: Nature genetics. 39(6)
مصطلحات موضوعية: Retinal degeneration, Male, Pathology, medicine.medical_specialty, Biology, Tetrahymena thermophila, Asphyxia, Thoracic Diseases, Intraflagellar transport, Genetics, medicine, Animals, Humans, Zebrafish, Cystic kidney, Bone Diseases, Developmental, Short rib – polydactyly syndrome, Polydactyly, Cilium, Infant, Newborn, Dystrophy, Kidney Diseases, Cystic, medicine.disease, Pedigree, Sensenbrenner syndrome, Mutation, Female, sense organs, Carrier Proteins
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