يعرض 1 - 10 نتائج من 20 نتيجة بحث عن '"Di Gioia, S.A."', وقت الاستعلام: 1.09s تنقيح النتائج
  1. 1
    دورية أكاديمية
    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

    المؤلفون: Quinodoz, M., Royer-Bertrand, B., Cisarova, K., Di Gioia, S.A., Superti-Furga, A., Rivolta, C.

    المصدر: American journal of human genetics, vol. 101, no. 4, pp. 623-629

    مصطلحات موضوعية: Databases, Genetic, Genes, Dominant, Genetic Diseases, Inborn/genetics, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing/methods, Humans, Machine Learning, Mutation, Software

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28985496; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5037815084FE5; https://serval.unil.ch/notice/serval:BIB_5037815084FETest; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_5037815084FE.P002/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5037815084FE5Test

    الإتاحة: https://doi.org/10.1016/j.ajhg.2017.09.001Test
    https://serval.unil.ch/notice/serval:BIB_5037815084FETest
    https://serval.unil.ch/resource/serval:BIB_5037815084FE.P002/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5037815084FE5Test

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  2. 2
    دورية أكاديمية
    Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

    المؤلفون: Nikopoulos, K., Farinelli, P., Giangreco, B., Tsika, C., Royer-Bertrand, B., Mbefo, M.K., Bedoni, N., Kjellström, U., El Zaoui, I., Di Gioia, S.A., Balzano, S., Cisarova, K., Messina, A., Decembrini, S., Plainis, S., Blazaki, S.V., Khan, M.I., Micheal, S., Boldt, K., Ueffing, M., Moulin, A.P., Cremers, F.P., Roepman, R., Arsenijevic, Y., Tsilimbaris, M.K., Andréasson, S., Rivolta, C.

    المصدر: American journal of human genetics, vol. 99, no. 3, pp. 770-776

    مصطلحات موضوعية: Aged, Alleles, Animals, Cadaver, Cell Cycle Proteins/genetics, Cell Cycle Proteins/metabolism, Cilia/pathology, Cohort Studies, Cone-Rod Dystrophies/complications, Cone-Rod Dystrophies/genetics, Cone-Rod Dystrophies/pathology, Cone-Rod Dystrophies/physiopathology, Exome/genetics, Eye/embryology, Eye/metabolism, Eye Proteins/metabolism, Female, Fibroblasts/pathology, Greece, Hearing Loss, Sensorineural/complications, Sensorineural/genetics, Sensorineural/pathology, Sensorineural/physiopathology, Heterozygote, Homozygote, Humans, Introns/genetics, Male, Mice

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27588451; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_4A7C86DC11B43; https://serval.unil.ch/notice/serval:BIB_4A7C86DC11B4Test; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_4A7C86DC11B4.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4A7C86DC11B43Test

    الإتاحة: https://doi.org/10.1016/j.ajhg.2016.07.009Test
    https://serval.unil.ch/notice/serval:BIB_4A7C86DC11B4Test
    https://serval.unil.ch/resource/serval:BIB_4A7C86DC11B4.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4A7C86DC11B43Test

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  3. 3
    دورية أكاديمية
    Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

    المؤلفون: Di Gioia, S.A., Farinelli, P., Letteboer, S.J., Arsenijevic, Y., Sharon, D., Roepman, R., Rivolta, C.

    المصدر: Human Molecular Genetics, vol. 24, no. 12, pp. 3359-3371

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25749990; info:eu-repo/semantics/altIdentifier/eissn/1460-2083; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_CA43B98E107E7; https://serval.unil.ch/notice/serval:BIB_CA43B98E107ETest; urn:issn:0964-6906; https://serval.unil.ch/resource/serval:BIB_CA43B98E107E.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CA43B98E107E7Test

    الإتاحة: https://doi.org/10.1093/hmg/ddv085Test
    https://serval.unil.ch/notice/serval:BIB_CA43B98E107ETest
    https://serval.unil.ch/resource/serval:BIB_CA43B98E107E.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CA43B98E107E7Test

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  4. 4
    دورية أكاديمية
    Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

    المؤلفون: Nikopoulos, K., Avila-Fernandez, A., Corton, M., Lopez-Molina, M.I., Perez-Carro, R., Bontadelli, L., Di Gioia, S.A., Zurita, O., Garcia-Sandoval, B., Rivolta, C., Ayuso, C.

    المصدر: Scientific Reports, vol. 5, pp. 13902

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26350383; info:eu-repo/semantics/altIdentifier/eissn/2045-2322; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E5B61BAA557D3; https://serval.unil.ch/notice/serval:BIB_E5B61BAA557DTest; urn:issn:2045-2322; https://serval.unil.ch/resource/serval:BIB_E5B61BAA557D.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E5B61BAA557D3Test

    الإتاحة: https://doi.org/10.1038/srep13902Test
    https://serval.unil.ch/notice/serval:BIB_E5B61BAA557DTest
    https://serval.unil.ch/resource/serval:BIB_E5B61BAA557D.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E5B61BAA557D3Test

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  5. 5
    دورية أكاديمية
    Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa.

    المؤلفون: Venturini, G., Di Gioia, S.A., Harper, S., Weigel-Difranco, C., Rivolta, C., Berson, E.L.

    المصدر: Plos One, vol. 9, no. 3, pp. e92479

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24651477; info:eu-repo/semantics/altIdentifier/eissn/1932-6203; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_9D8FA761BBAD6; https://serval.unil.ch/notice/serval:BIB_9D8FA761BBADTest; urn:issn:1932-6203; https://serval.unil.ch/resource/serval:BIB_9D8FA761BBAD.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9D8FA761BBAD6Test

    الإتاحة: https://doi.org/10.1371/journal.pone.0092479Test
    https://serval.unil.ch/notice/serval:BIB_9D8FA761BBADTest
    https://serval.unil.ch/resource/serval:BIB_9D8FA761BBAD.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9D8FA761BBAD6Test

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  6. 6
    دورية أكاديمية
    FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.

    المؤلفون: Di Gioia, S.A., Letteboer, S.J., Kostic, C., Bandah-Rozenfeld, D., Hetterschijt, L., Sharon, D., Arsenijevic, Y., Roepman, R., Rivolta, C.

    المصدر: Human Molecular Genetics, vol. 21, no. 23, pp. 5174-5184

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22940612; info:eu-repo/semantics/altIdentifier/eissn/1460-2083; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_8220F56B55C81; https://serval.unil.ch/notice/serval:BIB_8220F56B55C8Test; urn:issn:0964-6906; https://serval.unil.ch/resource/serval:BIB_8220F56B55C8.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8220F56B55C81Test

    الإتاحة: https://doi.org/10.1093/hmg/dds368Test
    https://serval.unil.ch/notice/serval:BIB_8220F56B55C8Test
    https://serval.unil.ch/resource/serval:BIB_8220F56B55C8.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8220F56B55C81Test

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  7. 7
    دورية أكاديمية
    Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.

    المؤلفون: Rio Frio, T., Panek, S., Iseli, C., Di Gioia, S.A., Kumar, A., Gal, A., Rivolta, C.

    المصدر: Molecular Vision, vol. 15, pp. 2627-2633

    مصطلحات موضوعية: Genetic Loci/genetics, Genetic Predisposition to Disease, High-Throughput Screening Assays/methods, Humans, Malate Dehydrogenase/genetics, Polymorphism, Single Nucleotide/genetics, Retinitis Pigmentosa/enzymology, Retinitis Pigmentosa/genetics, Sequence Analysis, DNA/methods

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20011630; info:eu-repo/semantics/altIdentifier/pissn/1090-0535[electronic], 1090-0535[linking]; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_B92C111FABDE8; https://serval.unil.ch/notice/serval:BIB_B92C111FABDETest; https://serval.unil.ch/resource/serval:BIB_B92C111FABDE.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_B92C111FABDE8Test

    الإتاحة: https://serval.unil.ch/notice/serval:BIB_B92C111FABDETest
    https://serval.unil.ch/resource/serval:BIB_B92C111FABDE.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_B92C111FABDE8Test

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  8. 8
    دورية أكاديمية
    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

    المؤلفون: Quinodoz, M., Royer-Bertrand, B., Cisarova, K., Di Gioia, S.A., Superti-Furga, A., Rivolta, C.

    المصدر: Serveur académique Lausannois ; American journal of human genetics, vol. 101, no. 4, pp. 623-629

    مصطلحات موضوعية: envir, stat

    العلاقة: urn:issn:0002-9297; 10670/1.zswrlo; https://serval.unil.ch/resource/serval:BIB_5037815084FE.P002/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5037815084FE5Test

    الإتاحة: https://doi.org/10.1016/j.ajhg.2017.09.001Test
    https://serval.unil.ch/resource/serval:BIB_5037815084FE.P002/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5037815084FE5Test

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  9. 9
    دورية أكاديمية
    Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

    المؤلفون: Nikopoulos, K., Farinelli, P., Giangreco, B., Tsika, C., Royer-Bertrand, B., Mbefo, M.K., Bedoni, N., Kjellstrom, U., El Zaoui, I., Di Gioia, S.A., Balzano, S., Cisarova, K., Messina, A., Decembrini, S., Plainis, S., Blazaki, S.V., Khan, M.I., Micheal, S., Boldt, K., Ueffing, M., Moulin, A.P., Cremers, F.P., Roepman, R., Arsenijevic, Y., Tsilimbaris, M.K., Andreasson, S., Rivolta, C.

    المصدر: American Journal of Human Genetics, 99, 3, pp. 770-6

    مصطلحات موضوعية: Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences

    العلاقة: http://hdl.handle.net/2066/167968Test; https://doi.org/10.1016/j.ajhg.2016.07.009Test

    الإتاحة: https://doi.org/10.1016/j.ajhg.2016.07.009Test
    http://hdl.handle.net/2066/167968Test

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  10. 10
    دورية أكاديمية
    Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

    المؤلفون: Nikopoulos, K., Avila-Fernandez, A., Corton, M., Lopez-Molina, M.I., Perez-Carro, R., Bontadelli, L., Di Gioia, S.A., Zurita, O., Garcia-Sandoval, B., Rivolta, C., Ayuso, C.

    المصدر: Serveur académique Lausannois ; Scientific Reports, vol. 5, pp. 13902

    مصطلحات موضوعية: psy, anthro-se

    العلاقة: urn:issn:2045-2322; 10670/1.ou63wl; https://serval.unil.ch/resource/serval:BIB_E5B61BAA557D.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E5B61BAA557D3Test

    الإتاحة: https://doi.org/10.1038/srep13902Test
    https://serval.unil.ch/resource/serval:BIB_E5B61BAA557D.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E5B61BAA557D3Test

    View record in BASE النص الكامل

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