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المؤلفون: William B. Dobyns, Georg Seelig, Lynne M. Overman, Forrest O. Gulden, Ian A. Glass, Andrew E. Timms, Ian G. Phelps, Matthew Hirano, Paula Alexandre, Alexander B. Rosenberg, Kathleen J. Millen, Gabriel Santpere, Dan Doherty, Steven Lisgo, Charles M. Roco, Mei Deng, Parthiv Haldipur, Zachary Thomson, Kimberly A. Aldinger, Belen Lorente-Galdos, Diana R. O’Day, Nenad Sestan
المصدر: Nature neuroscience
مصطلحات موضوعية: 0301 basic medicine, Cell type, Cerebellum, Neurogenesis, Laser Capture Microdissection, Biology, Article, Transcriptome, 03 medical and health sciences, Fetus, 0302 clinical medicine, Single-cell analysis, medicine, Humans, Gene, Laser capture microdissection, General Neuroscience, 030104 developmental biology, medicine.anatomical_structure, Single-Cell Analysis, Neuroscience, 030217 neurology & neurosurgery, Neuroanatomy
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المؤلفون: Dan Doherty, Nadine Bachmann, Rachel H. Giles, Erica E. Davis, Asbjørn Holmgren, Dulika S. Sumathipala, Barbara Käsmann-Kellner, Lokuliyange D S Senaratne, Suzanne Crowley, Sebastian Patzke, Nicholas Katsanis, Petter Strømme, Daniel Epting, Christian Decker, Kari-Anne M Frikstad, Carsten Bergmann, Manuela Zucknick, Diana Bracht, Tuva Barøy, Elisabeth Ott, Eva Decker, Soeren S. Lienkamp, Doriana Misceo, Ian G. Phelps, Heymut Omran, Miriam Schmidts, Alma Sikiric, Selma Mujezinovic Larsen, Julia Wallmeier, Eirik Frengen
المصدر: Human Mutation
مصطلحات موضوعية: Male, Pathology, Ciliopathies, whole exome sequencing, CBY1, Cerebellum, Eye Abnormalities, Child, Research Articles, Zebrafish, Genetics (clinical), Exome sequencing, 0303 health sciences, Polydactyly, Cilium, Homozygote, 030305 genetics & heredity, Nuclear Proteins, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Smoothened Receptor, Pedigree, 3. Good health, Phenotype, Child, Preschool, primary cilia defect, Female, medicine.symptom, Research Article, medicine.medical_specialty, Adolescent, Biology, Retina, Joubert syndrome, Young Adult, 03 medical and health sciences, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, 030304 developmental biology, Cerebellar ataxia, Genetic heterogeneity, Infant, Newborn, Infant, Fibroblasts, medicine.disease, Ciliopathy, ciliopathy, Mutation, Carrier Proteins
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3دورية أكاديمية
المؤلفون: Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A Mans, Sylvia E C van Beersum, Ian G Phelps, Heleen H Arts, Jan E Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B Moens, Stephan C F Neuhauss, Hannie Kremer, Erwin van Wijk
المصدر: PLoS Genetics, Vol 11, Iss 10, p e1005575 (2015)
وصف الملف: electronic resource
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المؤلفون: Ian G. Phelps, Ruxandra Bachmann-Gagescu, Hannah M. Tully, Ian A. Glass, Jennifer C. Dempsey, Dan Doherty
المساهمون: University of Zurich, Doherty, Dan
المصدر: American Journal of Medical Genetics Part A. 173:1237-1242
مصطلحات موضوعية: Male, 0301 basic medicine, 2716 Genetics (clinical), Pediatrics, medicine.medical_specialty, Adolescent, 10039 Institute of Medical Genetics, Population, 610 Medicine & health, Retina, Joubert syndrome, 03 medical and health sciences, 1311 Genetics, Nephronophthisis, Cerebellum, Genetics, Risk of mortality, Humans, Medicine, Abnormalities, Multiple, hepatic fibrosis, Eye Abnormalities, Renal Insufficiency, Child, education, Genetics (clinical), Cause of death, education.field_of_study, business.industry, Kidney Diseases, Cystic, medicine.disease, mortality, Rhombencephalon, 030104 developmental biology, Respiratory failure, Child, Preschool, nephronophthisis, Cohort, 570 Life sciences, biology, Female, business, Kidney disease
وصف الملف: Dempsey_et_al._Mortality_in_Joubert_syndrome_AJMG.pdf - application/pdf
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المؤلفون: Hamit Özyürek, N. de Lacy, Brian J. O'Roak, Tessa Rue, Jay Shendure, Evan A. Boyle, Phillip F. Chance, Angels García-Cazorla, Jennifer C. Dempsey, Dana M. Knutzen, Charles Marques Lourenço, I A Glass, Beyhan Tüysüz, Diana R. O’Day, Jonathan Adkins, Dan Doherty, Ruxandra Bachmann-Gagescu, Gisele E. Ishak, Radha Ramadevi A, Melissa A. Parisi, L Lingappa, Loreto Martorell, Abdulrahman Alswaid, G Haliloğlu, Ian G. Phelps, Christine R. Isabella, Meral Topçu, Nicholas T. Gorden
المساهمون: OMÜ, Çocuk ve Ergen Ruh Sağlığı ve Hastalıkları, University of Zurich, Doherty, D
المصدر: Journal of Medical Genetics
JOURNAL OF MEDICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: 2716 Genetics (clinical), 10039 Institute of Medical Genetics, TMEM67, DNA Mutational Analysis, Biology, Carrier testing, Bioinformatics, Article, Retina, Joubert syndrome, Cohort Studies, Genetic Heterogeneity, 1311 Genetics, Cerebellum, Genetics, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Genetic Association Studies, Genetics (clinical), Genetics & Heredity, Coloboma, Polydactyly, Genetic heterogeneity, Sequence Analysis, DNA, Kidney Diseases, Cystic, Models, Theoretical, medicine.disease, 10124 Institute of Molecular Life Sciences, Hypotonia, Pedigree, 3. Good health, Ciliopathy, 570 Life sciences, biology, medicine.symptom
وصف الملف: text/plain
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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: 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: Christine R. Isabella, Hannah M. Tully, Dan Doherty, Ian G. Phelps, Ruxandra Bachmann-Gagescu, Megan E. Grout, Jennifer C. Dempsey
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Multifactorial Inheritance, Genes, Recessive, Biology, Joubert syndrome, Retina, Article, 03 medical and health sciences, Cerebellum, Genetic variation, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Eye Abnormalities, Allele, Allele frequency, Exome, Genetics (clinical), Alleles, Genetic Association Studies, Genetics, Genes, Modifier, Models, Genetic, Genetic Diseases, Inborn, Genetic Variation, Kidney Diseases, Cystic, genetic modifiers, medicine.disease, Phenotype, oligogenicity, Ciliopathy, 030104 developmental biology, Mutation, ciliopathies
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المؤلفون: Jennifer C. Dempsey, Jacek Majewski, Ryan E. Lamont, Karen W. Gripp, Kym M. Boycott, Ian G. Phelps, Kimberly A. Aldinger, Stephen J. Mosca, Dan Doherty, A. Micheil Innes, Laura D. Baker, Jillian S. Parboosingh, Donald Basel, Taila Hartley, Francois P. Bernier, Diana R. O’Day, Martine Tétreault, Mark J. Stephan, Gisele E. Ishak
المصدر: The American Journal of Human Genetics. 95(2):227-234
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Cerebellar dysplasia, Biology, Fluid-attenuated inversion recovery, Muscular Dystrophies, 03 medical and health sciences, Cerebellar Cortex, Young Adult, 0302 clinical medicine, Cerebellar Diseases, Report, Retinal Dystrophies, medicine, Genetics, Humans, Exome, Genetics(clinical), Allele, Child, Alleles, Genetics (clinical), 030219 obstetrics & reproductive medicine, Base Sequence, Cysts, Sequence Analysis, DNA, medicine.disease, Disease gene identification, Child, Preschool, Cerebellar cortex, 030221 ophthalmology & optometry, Congenital muscular dystrophy, Female, Laminin, Erratum
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المؤلفون: Deborah A. Nickerson, Ian G. Phelps, Brian J. O'Roak, Gemma L. Carvill, Jarrett D. Egertson, Bradley P. Coe, Jeff Munson, Roie Levy, Katy Ankenman, Laura Vives, Ian B. Stanaway, Dan Doherty, Niklas Krumm, Heather C Mefford, Wenqing Fu, Diana R. O’Day, Jay Shendure, Joseph B. Hiatt, Akash Kumar, Joshua M. Akey, Evan E. Eichler, Beth Martin, Emily H. Turner, Raphael Bernier, Choli Lee, Elhanan Borenstein
المصدر: Science. 338:1619-1622
مصطلحات موضوعية: Genetics, Candidate gene, Mutation, Multidisciplinary, Sequence analysis, Biology, medicine.disease_cause, Molecular Inversion Probe, medicine.disease, medicine, Autism, Exome, Gene, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c722ab00ce5d70f932b661c32ec3ed22
https://doi.org/10.1126/science.1227764
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