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101دورية أكاديمية
المؤلفون: Débora Biazim, Diego Casagrande, Paula Kataguiri
المصدر: Revista Brasileira de Oftalmologia, Vol 78, Iss 4, Pp 268-270
مصطلحات موضوعية: Corneal dystrophies, hereditary/diagnosis, Microscopy, confocal, Corneal stroma, Ophthalmology, RE1-994
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802019000400268&lng=en&tlng=enTest; https://doaj.org/toc/1982-8551Test; https://doaj.org/article/dc1c515b0cc84afcadd2e8baf0b5d588Test
الإتاحة: https://doi.org/10.5935/0034-7280.20190142Test
https://doaj.org/article/dc1c515b0cc84afcadd2e8baf0b5d588Test -
102دورية أكاديمية
المؤلفون: Morrissey, S. P., Borruat, F. X., Miller, D. H., Moseley, I. F., Sweeney, M. G., Govan, G. G., Kelly, M. A., Francis, D. A., Harding, A. E., McDonald, W. I.
المصدر: Journal of Neurology, Neurosurgery and Psychiatry, vol. 58, no. 1, pp. 70-4
مصطلحات موضوعية: Adolescent Adult Aged Alleles Brain/physiopathology DNA Probes, HLA/genetics DNA, Mitochondrial/genetics Female Follow-Up Studies *Functional Laterality Genome, Human Haplotypes Humans Immunoglobulin G/cerebrospinal fluid Magnetic Resonance Imaging Male Middle Aged Multiple Sclerosis/diagnosis/genetics Mutagenesis Optic Atrophies, Hereditary/diagnosis/*genetics/*physiopathology Point Mutation/genetics Polymerase Chain Reaction
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/7823072; info:eu-repo/semantics/altIdentifier/pissn/0022-3050; https://serval.unil.ch/notice/serval:BIB_1454736835F3Test
الإتاحة: https://doi.org/10.1136/jnnp.58.1.70Test
https://serval.unil.ch/notice/serval:BIB_1454736835F3Test -
103دورية أكاديمية
المؤلفون: Borruat, F. X., Sanders, M. D.
المصدر: Klinische Monatsblatter fur Augenheilkunde, vol. 204, no. 5, pp. 400-2
مصطلحات موضوعية: Adult DNA, Mitochondrial/genetics Diagnosis, Differential Female Humans Magnetic Resonance Imaging Male Middle Aged Mutation/genetics Optic Atrophies, Hereditary/*diagnosis/genetics Optic Nerve/pathology Phenotype
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/8051882; info:eu-repo/semantics/altIdentifier/pissn/0023-2165; https://serval.unil.ch/notice/serval:BIB_ACACCED3B7A6Test
الإتاحة: https://doi.org/10.1055/s-2008-1035568Test
https://serval.unil.ch/notice/serval:BIB_ACACCED3B7A6Test -
104دورية أكاديمية
المؤلفون: Borruat, F. X., Hirt, L., Regli, F.
المصدر: Revue Neurologique, vol. 150, no. 11, pp. 799-801
مصطلحات موضوعية: Adult Alcoholism/*complications DNA Mutational Analysis DNA, Mitochondrial/genetics Diagnosis, Differential Humans Male Optic Atrophies, Hereditary/*diagnosis/genetics Optic Nerve Diseases/*diagnosis/etiology Smoking/*adverse effects
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/7597375; info:eu-repo/semantics/altIdentifier/pissn/0035-3787; https://serval.unil.ch/notice/serval:BIB_DB82411289EFTest
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105دورية أكاديمية
المؤلفون: Borruat, F. X., Green, W. T., Graham, E. M., Sweeney, M. G., Morgan-Hughes, J. A., Sanders, M. D.
المصدر: British Journal of Ophthalmology, vol. 76, no. 9, pp. 571-3
مصطلحات موضوعية: DNA, Mitochondrial/analysis Diagnosis, Differential Fluorescein Angiography Humans Magnetic Resonance Imaging Male Middle Aged Optic Atrophies, Hereditary/*diagnosis/genetics Optic Atrophy/diagnosis Optic Nerve/pathology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/1420066; info:eu-repo/semantics/altIdentifier/pissn/0007-1161; https://serval.unil.ch/notice/serval:BIB_E4A7F2C6AC9ATest
الإتاحة: https://doi.org/10.1136/bjo.76.9.571Test
https://serval.unil.ch/notice/serval:BIB_E4A7F2C6AC9ATest -
106دورية أكاديمية
المصدر: Bulletin de la Société belge d'ophtalmologie, 243
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Adolescent, Adult, Child, DNA -- genetics, DNA, Antisense -- isolation & purification, Female, Humans, Male, Mutation, Optic Atrophies, Hereditary -- diagnosis, Hereditary -- genetics, Polymerase Chain Reaction, Visual Acuity
وصف الملف: No full-text files
العلاقة: uri/info:pmid/1302143; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/57902Test
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107دورية أكاديمية
المؤلفون: Michielin, O., Coukos, G.
المصدر: Praxis, vol. 103, no. 10, pp. 591-596
مصطلحات موضوعية: Cell Transformation, Neoplastic/genetics, DNA Mutational Analysis, Forecasting, Genetic Predisposition to Disease/genetics, Genetic Predisposition to Disease/prevention & control, Genome, Human/genetics, Germ-Line Mutation/genetics, Heterozygote Detection, Humans, Individualized Medicine, Neoplasms/genetics, Neoplasms/therapy, Neoplastic Syndromes, Hereditary/diagnosis, Hereditary/genetics, Oncogenes/genetics, Switzerland
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24800772; info:eu-repo/semantics/altIdentifier/pissn/1661-8157; https://serval.unil.ch/notice/serval:BIB_9B0D168EBA26Test; urn:issn:1661-8157
الإتاحة: https://doi.org/10.1024/1661-8157/a001659Test
https://serval.unil.ch/notice/serval:BIB_9B0D168EBA26Test -
108
المؤلفون: Débora Biazim, Diego Casagrande, Paula Kataguiri
المصدر: Revista Brasileira de Oftalmologia, Vol 78, Iss 4, Pp 268-270
مصطلحات موضوعية: Corneal dystrophies, hereditary/diagnosis, Corneal stroma, lcsh:Ophthalmology, lcsh:RE1-994, Microscopy, confocal
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doajarticles::6acb8e3f614f253a8d7d68378e776b8cTest
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802019000400268&lng=en&tlng=enTest -
109دورية أكاديمية
المؤلفون: Schorderet, D.F., Escher, P.
المصدر: Human Mutation, vol. 30, no. 11, pp. 1475-1485
مصطلحات موضوعية: Animals, Databases, Genetic, Diagnosis, Differential, Eye Diseases, Hereditary/diagnosis, Hereditary/genetics, Genotype, Humans, Mice, Mutation, Orphan Nuclear Receptors/chemistry, Orphan Nuclear Receptors/genetics, Retinitis Pigmentosa/genetics, Syndrome
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19718767; info:eu-repo/semantics/altIdentifier/pissn/1098-1004[electronic], 1059-7794[linking]; https://serval.unil.ch/notice/serval:BIB_02CECDE0715BTest
الإتاحة: https://doi.org/10.1002/humu.21096Test
https://serval.unil.ch/notice/serval:BIB_02CECDE0715BTest -
110
المؤلفون: Isabel Habeyche Cardoso, Otávio de Azevedo Magalhães, Samuel Rymer, Sergio Kwitko, Lucia Maria Kliemann, Diane Ruschel Marinho
المصدر: Arquivos Brasileiros de Oftalmologia, Vol 75, Iss 5, Pp 356-357
Arquivos Brasileiros de Oftalmologia, Vol 75, Iss 5, Pp 356-357 (2012)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGSمصطلحات موضوعية: medicine.medical_specialty, Corneal dystrophies, hereditary, Tomography, optical coherence, Corneal dystrophy, Criança, Corneal opacity, Hereditary/diagnosis, Cornea, Optical coherence tomography, lcsh:Ophthalmology, Ophthalmology, Case report, Medicine, Humans, Child, Tomography, Optical coherence/methods, Opacidade da córnea, Relato de caso, Relatos de casos, medicine.diagnostic_test, business.industry, Distrofias hereditárias da córnea, Dystrophy, General Medicine, medicine.disease, Humanos, Tomografia de coerência óptica, lcsh:RE1-994, Corneal dystrophies, Child, Preschool, Gelatinous drop-like corneal dystrophy, Female, sense organs, business, Amyloidosis, Familial
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2f06ad2ca59c1c1abacdd6525d7f43Test
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492012000500013&lng=en&tlng=enTest