المؤلفون: Grudzinska Pechhacker, M.K., Jacobson, S.G., Drack, A.V., Scipio, M.D., Strubbe, I., Pfeifer, W., Duncan, J.L., Dollfus, H., Goetz, N., Muller, J., Vincent, A.L., Aleman, T.S., Tumber, A., Van Cauwenbergh, C., De Baere, E., Bedoukian, E., Leroy, B.P., Maynes, J.T., Munier, F.L., Tavares, E., Saleh, E., Vincent, A., Heon, E.

المصدر: Investigative ophthalmology & visual science, vol. 62, no. 15, pp. 26

مصطلحات موضوعية: Adolescent, Adult, Bardet-Biedl Syndrome/genetics, Bardet-Biedl Syndrome/physiopathology, Chaperonins/genetics, Child, Preschool, Electroretinography, Female, Humans, Male, Microtubule-Associated Proteins/genetics, Middle Aged, Mutation, Missense/genetics, Optical Imaging, Refraction, Ocular/physiology, Retina/physiopathology, Retinal Dystrophies/genetics, Retinal Dystrophies/physiopathology, Retrospective Studies, Tomography, Optical Coherence, Visual Acuity/physiology, Visual Field Tests, Visual Fields/physiology

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34940782; info:eu-repo/semantics/altIdentifier/eissn/1552-5783; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_9B1DCB9F79021; https://serval.unil.ch/notice/serval:BIB_9B1DCB9F7902Test; urn:issn:0146-0404; https://serval.unil.ch/resource/serval:BIB_9B1DCB9F7902.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9B1DCB9F79021Test

الإتاحة: https://doi.org/10.1167/iovs.62.15.26Test
https://serval.unil.ch/notice/serval:BIB_9B1DCB9F7902Test
https://serval.unil.ch/resource/serval:BIB_9B1DCB9F7902.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9B1DCB9F79021Test

المؤلفون: Barny, I., Perrault, I., Michel, C., Goudin, N., Defoort-Dhellemmes, S., Ghazi, I., Kaplan, J., Rozet, J.M., Gerard, X.

المصدر: Genes, vol. 10, no. 5

مصطلحات موضوعية: Antigens, Neoplasm/genetics, Neoplasm/metabolism, Cell Cycle Proteins/genetics, Cell Cycle Proteins/metabolism, Codon, Nonsense, Cytoskeletal Proteins/genetics, Cytoskeletal Proteins/metabolism, Exons/genetics, Eye Abnormalities/genetics, Eye Diseases, Hereditary/genetics, Humans, Male, Neoplasm Proteins/genetics, Oligonucleotides, Antisense/genetics, RNA Splicing, Retina/metabolism, Retinal Dystrophies/genetics, Retinal Dystrophies/physiopathology, AON-mediated exon skipping, CEP290, Cilia elongation, Flanders founder c.4723A >, Leber congenital amaurosis and allied retinal ciliopathies, T nonsense mutation, spontaneous nonsense correction

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31091803; info:eu-repo/semantics/altIdentifier/pissn/2073-4425; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0B5866B8F2446; https://serval.unil.ch/notice/serval:BIB_0B5866B8F244Test; urn:issn:2073-4425; https://serval.unil.ch/resource/serval:BIB_0B5866B8F244.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0B5866B8F2446Test

الإتاحة: https://doi.org/10.3390/genes10050368Test
https://serval.unil.ch/notice/serval:BIB_0B5866B8F244Test
https://serval.unil.ch/resource/serval:BIB_0B5866B8F244.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0B5866B8F2446Test

المؤلفون: Monika K. Grudzinska Pechhacker, Samuel G. Jacobson, Arlene V. Drack, Matteo Di Scipio, Ine Strubbe, Wanda Pfeifer, Jacque L. Duncan, Helene Dollfus, Nathalie Goetz, Jean Muller, Andrea L. Vincent, Tomas S. Aleman, Anupreet Tumber, Caroline Van Cauwenbergh, Elfride De Baere, Emma Bedoukian, Bart P. Leroy, Jason T. Maynes, Francis L. Munier, Erika Tavares, Eman Saleh, Ajoy Vincent, Elise Heon

المصدر: Investigative Ophthalmology and Visual Science, vol 62, iss 15
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Investigative Ophthalmology & Visual Science
Investigative ophthalmology & visual science, vol. 62, no. 15, pp. 26

مصطلحات موضوعية: Adult, Male, genetic structures, Adolescent, Chaperonins, Mutation, Missense, Visual Acuity, Refraction, Ocular, Retina, Ocular, Retinal Dystrophies, Medicine and Health Sciences, end points, Electroretinography, Humans, genetics, Child, Preschool, Bardet-Biedl Syndrome, Tomography, Retrospective Studies, Optical Imaging, General Medicine, Middle Aged, Bardet-Biedl Syndrome/genetics, Bardet-Biedl Syndrome/physiopathology, Chaperonins/genetics, Child, Preschool, Female, Microtubule-Associated Proteins/genetics, Mutation, Missense/genetics, Refraction, Ocular/physiology, Retina/physiopathology, Retinal Dystrophies/genetics, Retinal Dystrophies/physiopathology, Tomography, Optical Coherence, Visual Acuity/physiology, Visual Field Tests, Visual Fields/physiology, Bardet Biedl syndrome, Refraction, natural history, Optical Coherence, Mutation, retinal degeneration, sense organs, Missense, Visual Fields, Microtubule-Associated Proteins, blindness

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3812f62ba93f17ebe71aafaf621e64e9Test
https://escholarship.org/uc/item/4f15j5spTest

المؤلفون: Del Pozo-Valero, M., Martin-Merida, I., Jimenez-Rolando, B., Arteche, A., Avila-Fernandez, A., Blanco-Kelly, F., Riveiro-Alvarez, R., Van Cauwenbergh, C., De Baere, E., Rivolta, C., Garcia-Sandoval, B., Corton, M., Ayuso, C.

المصدر: American journal of ophthalmology, vol. 207, pp. 204-214

مصطلحات موضوعية: AC133 Antigen/genetics, Adult, Age of Onset, Electroretinography, Female, Genes, Dominant, Recessive, High-Throughput Nucleotide Sequencing, Humans, Male, Microsatellite Repeats, Mutation, Ophthalmoscopy, Phenotype, Polymorphism, Single Nucleotide, Retinal Dystrophies/diagnosis, Retinal Dystrophies/genetics, Retinal Dystrophies/physiopathology, Tomography, Optical Coherence, Visual Acuity/physiology, Visual Field Tests, Visual Fields/physiology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31129250; info:eu-repo/semantics/altIdentifier/eissn/1879-1891; https://serval.unil.ch/notice/serval:BIB_B2C4C967DE86Test; urn:issn:0002-9394

الإتاحة: https://doi.org/10.1016/j.ajo.2019.05.014Test
https://serval.unil.ch/notice/serval:BIB_B2C4C967DE86Test

المؤلفون: Imad Ghazi, Isabelle Perrault, Nicolas Goudin, Jean-Michel Rozet, Josseline Kaplan, Sabine Defoort-Dhellemmes, Iris Barny, Christel Michel, Xavier Gérard

المصدر: Genes, Vol 10, Iss 5, p 368 (2019)
Genes, vol. 10, no. 5

مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, 030105 genetics & heredity, Biology, spontaneous nonsense correction, medicine.disease_cause, 03 medical and health sciences, chemistry.chemical_compound, Exon, Genetics, medicine, Leber congenital amaurosis and allied retinal ciliopathies, Genetics (clinical), Flanders founder c.4723A >, Mutation, Cilium, Retinal, medicine.disease, Molecular biology, Exon skipping, Cilia elongation, Ciliopathy, Antigens, Neoplasm/genetics, Antigens, Neoplasm/metabolism, Cell Cycle Proteins/genetics, Cell Cycle Proteins/metabolism, Codon, Nonsense, Cytoskeletal Proteins/genetics, Cytoskeletal Proteins/metabolism, Exons/genetics, Eye Abnormalities/genetics, Eye Diseases, Hereditary/genetics, Humans, Male, Neoplasm Proteins/genetics, Oligonucleotides, Antisense/genetics, RNA Splicing, Retina/metabolism, Retinal Dystrophies/genetics, Retinal Dystrophies/physiopathology, AON-mediated exon skipping, CEP290, Flanders founder c.4723A > Leber congenital amaurosis and allied retinal ciliopathies, T nonsense mutation, lcsh:Genetics, 030104 developmental biology, chemistry, RNA splicing, Retinal Dystrophies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85d1b3289409a8e17d29649a47b30231Test
https://www.mdpi.com/2073-4425/10/5/368Test

المؤلفون: Tarnutzer, A. A., Gerth-Kahlert, C., Timmann, D., Chang, D. I., Harmuth, F., Bauer, P., Straumann, D., Synofzik, M.

المصدر: Journal of neurology 262(1), 194-202 (2014). doi:10.1007/s00415-014-7555-9

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Humans, Hypogonadism: genetics, Hypogonadism: pathology, Hypogonadism: physiopathology, Male, Mutation, Pedigree, Phospholipases: genetics, Retinal Dystrophies: genetics, Retinal Dystrophies: pathology, Retinal Dystrophies: physiopathology, Spinocerebellar Ataxias: genetics, Spinocerebellar Ataxias: pathology, Spinocerebellar Ataxias: physiopathology, PNPLA6 protein, human, Phospholipases

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/0939-1517; info:eu-repo/semantics/altIdentifier/pmid/pmid:25359264; info:eu-repo/semantics/altIdentifier/issn/1432-1459; info:eu-repo/semantics/altIdentifier/issn/0340-5354; info:eu-repo/semantics/altIdentifier/issn/1619-800X; info:eu-repo/semantics/altIdentifier/issn/0012-1037; https://pub.dzne.de/record/137743Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-04065%22Test

الإتاحة: https://doi.org/10.1007/s00415-014-7555-9Test
https://pub.dzne.de/record/137743Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-04065%22Test

المؤلفون: Synofzik, Matthis, Gonzalez, Michael A, Durr, Alexandra, Schöls, Ludger, Lima-Martínez, Marcos M, Farooq, Amjad, Schüle, Rebecca, Stevanin, Giovanni, Marques, Wilson, Züchner, Stephan, Lourenco, Charles Marques, Coutelier, Marie, Haack, Tobias B, Rebelo, Adriana, Hannequin, Didier, Strom, Tim M, Prokisch, Holger, Kernstock, Christoph

المصدر: Brain 137(1), 69-77 (2013). doi:10.1093/brain/awt326

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Ataxia: etiology, Ataxia: genetics, Cerebellar Ataxia: genetics, Cerebellar Ataxia: physiopathology, DNA: genetics, Exome: genetics, Family, Female, Gonadotropin-Releasing Hormone: deficiency, Gonadotropin-Releasing Hormone: genetics, Heredodegenerative Disorders, Nervous System: genetics, Nervous System: physiopathology, Humans, Hypogonadism: genetics, Hypogonadism: physiopathology, Male, Middle Aged, Models, Molecular, Mutation: genetics, Mutation: physiology, Phospholipases: genetics, Retinal Dystrophies: genetics, Retinal Dystrophies: physiopathology, Spastic Paraplegia, Hereditary: genetics, Spinocerebellar Ataxias: genetics

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/0006-8950; info:eu-repo/semantics/altIdentifier/issn/1460-2156; info:eu-repo/semantics/altIdentifier/pmid/pmid:24355708; https://pub.dzne.de/record/137230Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-03552%22Test

الإتاحة: https://doi.org/10.1093/brain/awt326Test
https://pub.dzne.de/record/137230Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-03552%22Test