المؤلفون: D'Abrusco, F., Serpieri, V., Taccagni, C.M., Garau, J., Cattaneo, L., Boggioni, M., Gana, S., Battini, R., Bertini, E., Zanni, G., Boltshauser, E., Borgatti, R., Romaniello, R., Signorini, S., Leuzzi, V., Caputi, C., Manti, F., D'Arrigo, S., De Laurentiis, A., Graziano, C., Lemke, J.R., Morelli, F., Petković Ramadža, D., Sirchia, F., Giorgio, E., Valente, E.M.

المصدر: European journal of human genetics, vol. 33, no. 1, pp. 72-79

مصطلحات موضوعية: Humans, Kidney Diseases, Cystic/genetics, Cystic/diagnosis, Abnormalities, Multiple/genetics, Multiple/diagnosis, Cerebellum/abnormalities, Cerebellum/pathology, Eye Abnormalities/genetics, Eye Abnormalities/diagnosis, DNA Copy Number Variations, Retina/abnormalities, Retina/pathology, Female, Male, Child, Exome Sequencing, RNA Splicing, Preschool, Mutation, Adolescent, Heterozygote, Infant, Exome/genetics, Cytoplasmic Dyneins/genetics, Cytoskeletal Proteins, Membrane Proteins, Cell Cycle Proteins

Relation: info:eu-repo/semantics/altIdentifier/pmid/39394465; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; https://serval.unil.ch/notice/serval:BIB_0FE1AE2BBAEE

الاتاحة: https://serval.unil.ch/notice/serval:BIB_0FE1AE2BBAEE
https://doi.org/10.1038/s41431-024-01703-x

المؤلفون: Yenice, Eşay Kıran, Petriçli, İkbal Seza, Kara, Caner

المصدر: Arquivos Brasileiros de Oftalmologia. January 2022

مصطلحات موضوعية: Eye abnormalities/diagnosis, Retinal, hemorrhage, Neonatal screening, Vision screening, Humans, Infant, newborn

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492022005008209

المؤلفون: Mahmoud, A., Pomar, L., Lambert, V., Picone, O., Hcini, N.

المصدر: Ocular immunology and inflammation, vol. 32, no. 9, pp. 2217-2227

مصطلحات موضوعية: Humans, Zika Virus Infection/congenital, Zika Virus Infection/diagnosis, Zika Virus Infection/complications, Pregnancy, Female, Eye Abnormalities/virology, Eye Abnormalities/diagnosis, Infant, Newborn, Zika Virus, Eye Infections, Viral/diagnosis, Viral/virology, Pregnancy Complications, Infectious/diagnosis, Microphthalmos/diagnosis, Microphthalmos/virology, Congenital Zika syndrome, eyes, microcephaly

Relation: info:eu-repo/semantics/altIdentifier/pmid/38350011; info:eu-repo/semantics/altIdentifier/eissn/1744-5078; https://serval.unil.ch/notice/serval:BIB_34CA5067A93E

الاتاحة: https://serval.unil.ch/notice/serval:BIB_34CA5067A93E
https://doi.org/10.1080/09273948.2024.2314086

المؤلفون: Pereira Vieira, Maria João, Campos, Sónia, Carvalheira, Fausto, Arruda, Henrique, Martins, Joana, Sousa, João

المصدر: Revista Sociedade Portuguesa de Oftalmologia; Vol. 45 No. 1 (2021); 49-52 ; Revista Sociedade Portuguesa de Oftalmologia; Vol. 45 N.º 1 (2021); 49-52 ; 1646-6950

مصطلحات موضوعية: Eye Abnormalities/diagnosis, Eye Abnormalities/surgery, Eyelids/surgery, Infant, Newborn, Anomalias Congénitas do Olho/diagnóstico, Anomalias Congénitas do Olho/cirurgia, Pálpebras/cirurgia, Recém-Nascido

وصف الملف: application/pdf

Relation: https://revistas.rcaap.pt/oftalmologia/article/view/23910/17759; https://revistas.rcaap.pt/oftalmologia/article/view/23910

الاتاحة: https://revistas.rcaap.pt/oftalmologia/article/view/23910

المؤلفون: Kolosky, Taylor, Panchal, Bhakti, Onyekaba, Ndidi-Amaka, Ludeman, Emilie, Jallow, Mariama, Alexander, Janet L.

مصطلحات موضوعية: Prenatal Diagnosis--methods, Eye Abnormalities--diagnosis, Magnetic Resonance Imaging, Ultrasonography, Systematic Review

Relation: http://hdl.handle.net/10713/20409

الاتاحة: http://hdl.handle.net/10713/20409

المؤلفون: Stock, Ricardo Alexandre, Fernandes, Natalie Lucas, Pastro, Nathan Lopes, Oliveira, Rafaela Santini de, Bonamigo, Elcio Luiz

المصدر: Arquivos Brasileiros de Oftalmologia. February 2013 76(1)

مصطلحات موضوعية: Eye abnormalities/diagnosis, Glaucoma open-angle/surgery, Eye health, Sclera/blood supply, Venous pressure, Veins/pathology, Syndrome, Varicose veins, Angiography, Ocular physiological processes, Humans, Male, Aged, Case report

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492013000100013

المؤلفون: Bertelsen, Trine, Salskov-Iversen, Maria Luise, Stausböl-Grön, Birgitte, Hedelund, Lene

المصدر: Ugeskrift for Laeger. 175(37):2118

المؤلفون: Pereira Vieira, Maria João, Campos, Sónia, Carvalheira, Fausto, Arruda, Henrique, Martins, Joana, Sousa, João

المصدر: Revista Sociedade Portuguesa de Oftalmologia; Vol. 45 No. 1 (2021); 49-52
Revista Sociedade Portuguesa de Oftalmologia; Vol. 45 N.º 1 (2021); 49-52
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Eyelids/surgery, Recém-Nascido, Anomalias Congénitas do Olho/cirurgia, Eye Abnormalities/surgery, Infant, Newborn, Eye Abnormalities/diagnosis, Pálpebras/cirurgia, eye diseases, Anomalias Congénitas do Olho/diagnóstico

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6ea2f1bd7944777e76886d06713204b
https://revistas.rcaap.pt/oftalmologia/article/view/23910

المؤلفون: Danny A Mammo, Yao Wang, Michael S Lee, Ali Mokhtarzadeh, Andrew R Harrison, Collin M McClelland

المساهمون: Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota

المصدر: Journal of Neuro-Ophthalmology, March 2021, Volume 41, Issue 1

مصطلحات موضوعية: Adult, Exophthalmos / complications, Exophthalmos / diagnosis, Eye Abnormalities / complications, Eye Abnormalities / diagnosis, Eyelid Diseases / complications, Eyelid Diseases / diagnosis, Humans, Magnetic Resonance Imaging, Male, Muscle Hypotonia / complications, Muscle Hypotonia / diagnosis, Nerve Fibers / pathology, Optic Nerve Diseases / diagnosis, Optic Nerve Diseases / etiology, Orbit / abnormalities, Retinal Ganglion Cells / pathology, Sleep Apnea, Obstructive / complications, Obstructive / diagnosis, Tomography, Optical Coherence, Visual Acuity / physiology, Visual Field Tests

Relation: https://collections.lib.utah.edu/ark:/87278/s6pcw7wb

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s6pcw7wb

المساهمون: Christopher Seungkyu Lee, Se Joon Woo, Yong-Kyu Kim, Duck Jin Hwang, Hae Min Kang, Hyesun Kim, Sung Chul Lee, Kang, Hae Min, Kim, Hye Sun, Lee, Sung Chul, Lee, Seung Kyu

مصطلحات موضوعية: Adult, Aged, Central Serous Chorioretinopathy/diagnosis, Choroid/abnormalities, Choroid/pathology, Choroid Diseases/diagnosis, Choroidal Neovascularization/diagnosis, Coloring Agents, Eye Abnormalities/diagnosis, Female, Fluorescein Angiography, Humans, Indocyanine Green, Intraocular Pressure/physiology, Male, Middle Aged, Organ Size, Polyps/diagnosis, Retrospective Studies, Tomography, Optical Coherence, Visual Acuity/physiology

وصف الملف: 1029~1035

Relation: OPHTHALMOLOGY; J02432; OAK-2014-00916; https://ir.ymlib.yonsei.ac.kr/handle/22282913/98836; http://www.sciencedirect.com/science/article/pii/S016164201301169X; T201401569; OPHTHALMOLOGY, Vol.121(5) : 1029-1035, 2014

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/98836
https://doi.org/10.1016/j.ophtha.2013.11.043
http://www.sciencedirect.com/science/article/pii/S016164201301169X

المؤلفون: Andersson Grönlund, M, Aring, E, Strömland, K, Landgren, M, Svensson, L Å, Hellström, A

المصدر: Läkartidningen. 106(10):676

المساهمون: Si-Hyung LEE, Jong Hoon KIM, Ju Hee LEE, Soo-Chan KIM, Kim, Soo Chan, Lee, Ju Hee, Kim, Jong Hoon

مصطلحات موضوعية: Abnormalities, Multiple/diagnosis, Aortic Coarctation/diagnosis, Aortic Coarctation/therapy, Eye Abnormalities/diagnosis, Eye Abnormalities/therapy, Female, Foot Deformities, Congenital/diagnosis, Congenital/therapy, Hand Deformities, Humans, Infant, Newborn, Neurocutaneous Syndromes/diagnosis, Neurocutaneous Syndromes/therapy

Relation: JOURNAL OF DERMATOLOGY; J01372; OAK-2012-01984; https://ir.ymlib.yonsei.ac.kr/handle/22282913/90764; T201203536; JOURNAL OF DERMATOLOGY, Vol.39(12) : 1054-1055, 2012

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/90764
http://onlinelibrary.wiley.com/doi/10.1111/j.1346-8138.2012.01588.x/abstract

المساهمون: College of Medicine, Dept. of Ophthalmology, Wook Kyum Kim, Seung Ah Chung, Jong Bok Lee, Lee, Jong Bok

مصطلحات موضوعية: Child, Eye Abnormalities/diagnosis, Eye Abnormalities/genetics, Eye Abnormalities/surgery, Eyeglasses, Female, Humans, Male, Twins, Monozygotic, Visual Acuity, Anisometropia, Identical twins, Infantile nystagmus, Intermittent exotropia, Mirror image anomaly

Relation: Korean Journal of Ophthalmology; J02931; OAK-2010-02947; https://ir.ymlib.yonsei.ac.kr/handle/22282913/158107; T201006150; Korean Journal of Ophthalmology, Vol.24(5) : 314-317, 2010

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/158107
https://doi.org/10.3341/kjo.2010.24.5.314

المؤلفون: Merlini, Laura, Vargas Gomez, Maria Isabel, De Haller, Raoul, Rilliet, Bénédict, Fluss, Joel Victor

المصدر: ISSN: 0301-0449 ; Pediatric radiology, vol. 40, no. 10 (2010) p. 1625-1633.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616.8, info:eu-repo/classification/ddc/618, Apraxias/*diagnosis, Cerebellar Diseases/diagnosis, Child, Preschool, Eye Abnormalities/diagnosis, Humans, Infant, Kidney Diseases, Cystic/diagnosis, Magnetic Resonance Imaging, Ocular Motility Disorders/*diagnosis, Retina/abnormalities

Relation: info:eu-repo/semantics/altIdentifier/pmid/20449733; https://archive-ouverte.unige.ch/unige:21138; unige:21138

الاتاحة: https://archive-ouverte.unige.ch/unige:21138

المؤلفون: Kroes, Hester Y, Monroe, Glen R, van der Zwaag, Bert, Duran, Karen J, de Kovel, Carolien G, van Roosmalen, Mark J, Harakalova, Magdalena, Nijman, Ies J, Kloosterman, Wigard P, Giles, Rachel H, Knoers, Nine V A M, van Haaften, Gijs

المصدر: Kroes , H Y , Monroe , G R , van der Zwaag , B , Duran , K J , de Kovel , C G , van Roosmalen , M J , Harakalova , M , Nijman , I J , Kloosterman , W P , Giles , R H , Knoers , N V A M & van Haaften , G 2016 , ' Joubert syndrome : genotyping a Northern European patient cohort ' , EJHG , vol. 24 , no. 2 , pp. 214-220 . https://doi.org/10.1038/ejhg.2015.84 ; ISSN:1018-4813

مصطلحات موضوعية: Abnormalities, Multiple/diagnosis, Adaptor Proteins, Signal Transducing/genetics, Adolescent, Cerebellum/abnormalities, Child, Preschool, Eye Abnormalities/diagnosis, Female, Genetic Counseling, Genotype, High-Throughput Nucleotide Sequencing, Humans, Infant, Kidney Diseases, Cystic/diagnosis, Male, Membrane Proteins/genetics, Pathology, Molecular, Proteins/genetics, Retina/abnormalities, Young Adult

الاتاحة: http://hdl.handle.net/11370/01daa816-81eb-4be5-a3b7-183021192272
https://research.rug.nl/en/publications/joubert-syndrome(01daa816-81eb-4be5-a3b7-183021192272).html
https://doi.org/10.1038/ejhg.2015.84

المؤلفون: Slaats, Gisela G, Isabella, Christine R, Kroes, Hester Y, Dempsey, Jennifer C, Gremmels, Hendrik, Monroe, Glen R, Phelps, Ian G, Duran, Karen J, Adkins, Jonathan, Kumar, Sairam A, Knutzen, Dana M, Knoers, Nine V, Mendelsohn, Nancy J, Neubauer, David, Mastroyianni, Sotiria D, Vogt, Julie, Worgan, Lisa, Karp, Natalya, Bowdin, Sarah, Glass, Ian A, Parisi, Melissa A, Otto, Edgar A, Johnson, Colin A, Hildebrandt, Friedhelm, van Haaften, Gijs, Giles, Rachel H, Doherty, Dan

المصدر: Slaats , G G , Isabella , C R , Kroes , H Y , Dempsey , J C , Gremmels , H , Monroe , G R , Phelps , I G , Duran , K J , Adkins , J , Kumar , S A , Knutzen , D M , Knoers , N V , Mendelsohn , N J , Neubauer , D , Mastroyianni , S D , Vogt , J , Worgan , L , Karp , N , Bowdin , S , Glass , I A , Parisi , M A , Otto ....

مصطلحات موضوعية: ADP-Ribosylation Factors/metabolism, Abnormalities, Multiple/diagnosis, Animals, Brain/pathology, Cells, Cultured, Cerebellum/abnormalities, Cilia/genetics, Exons, Eye Abnormalities/diagnosis, Fibroblasts/metabolism, Gene Expression Regulation, Humans, Kidney Diseases, Cystic/diagnosis, Magnetic Resonance Imaging, Mice, Models, Biological, Mutation, Phosphoric Monoester Hydrolases/metabolism, Protein Binding, Protein Transport, Proteins/genetics, Retina/abnormalities, Tomography, X-Ray Computed

الاتاحة: http://hdl.handle.net/11370/4acd41d9-32c1-4345-923a-ecc5fc182a16
https://research.rug.nl/en/publications/mks1-regulates-ciliary-inpp5e-levels-in-joubert-syndrome(4acd41d9-32c1-4345-923a-ecc5fc182a16).html
https://doi.org/10.1136/jmedgenet-2015-103250

المؤلفون: Ies J Nijman, Wigard P. Kloosterman, Mark van Roosmalen, Magdalena Harakalova, Rachel H. Giles, Carolien G.F. de Kovel, Gijs van Haaften, Karen Duran, Nine V A M Knoers, Hester Y. Kroes, Bert van der Zwaag, Glen R. Monroe

المصدر: EJHG, 24(2), 214-220. Nature Publishing Group
European Journal of Human Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, Signal Transducing/genetics, TMEM67, Adaptor Proteins, Signal Transducing/genetics, Bioinformatics, Cerebellum, Pathology, Eye Abnormalities, Pathology, Molecular, Child, Genetics (clinical), Genetics, Sanger sequencing, education.field_of_study, Cystic/diagnosis, Adaptor Proteins, High-Throughput Nucleotide Sequencing, Eye Abnormalities/diagnosis, Kidney Diseases, Cystic, Child, Preschool, Proteins/genetics, symbols, Kidney Diseases, Cerebellum/abnormalities, Female, Abnormalities, medicine.medical_specialty, Abnormalities, Multiple/diagnosis, Adolescent, Genotype, Population, Genetic Counseling, Consanguinity, Biology, CC2D2A, Retina, Article, Joubert syndrome, 03 medical and health sciences, symbols.namesake, Young Adult, Molecular genetics, medicine, Humans, Abnormalities, Multiple, Membrane Proteins/genetics, Preschool, education, Kidney Diseases, Cystic/diagnosis, Adaptor Proteins, Signal Transducing, Multiple/diagnosis, Genetic heterogeneity, Retina/abnormalities, Molecular, Membrane Proteins, Proteins, Infant, medicine.disease, Adaptor Proteins, Vesicular Transport, Cytoskeletal Proteins, 030104 developmental biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efd11d8828c702d788ff0fb87ebf3437
https://research.rug.nl/en/publications/01daa816-81eb-4be5-a3b7-183021192272

المؤلفون: Gillespie, R.L., Urquhart, J., Lovell, S.C., Biswas, S., Parry, N.R., Schorderet, D.F., Lloyd, I.C., Clayton-Smith, J., Black, G.C.

المصدر: Investigative Ophthalmology and Visual Science, vol. 56, no. 2, pp. 883-891

مصطلحات موضوعية: Abnormalities, Multiple, Anterior Eye Segment/abnormalities, Blotting, Western, Cataract/congenital, Cataract/diagnosis, Cells, Cultured, Child, Preschool, DNA/genetics, DNA Mutational Analysis, Ear/abnormalities, Eye Abnormalities/diagnosis, Eye Abnormalities/genetics, Genetic Testing, Homeodomain Proteins/genetics, Homeodomain Proteins/metabolism, Humans, Male, Mutation, Phenotype, Retinal Dystrophies/congenital, Retinal Dystrophies/diagnosis

Relation: info:eu-repo/semantics/altIdentifier/pmid/25574057; info:eu-repo/semantics/altIdentifier/eissn/1552-5783; https://serval.unil.ch/notice/serval:BIB_E0E2B7A6B865

الاتاحة: https://serval.unil.ch/notice/serval:BIB_E0E2B7A6B865
https://doi.org/10.1167/iovs.14-15861

المؤلفون: Antonov, Nina K, Spence-Shishido, Allyson, Marathe, Kalyani S., Tlougan, Brook, Kazim, Michael, Sultan, Sally, Hess, Christopher P, Morel, Kimberly D, Frieden, Ilona J, Garzon, Maria C

المصدر: Pediatrics Faculty Publications

مصطلحات موضوعية: Aortic Coarctation--diagnosis, Eye Abnormalities--diagnosis, Neurocutaneous--diagnosis, Orbital Neoplasms--diagnosis, Aortic Coarctation, Carotid Artery, Internal, Diagnosis, Differential, Eye Abnormalities, Female, Hemangioma, Humans, Infant, Magnetic Resonance Imaging, Neurocutaneous Syndromes, Orbital Neoplasms, Propranolol, Vasodilator Agents, Pediatrics

Relation: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/1684; http://dx.doi.org/10.1111/pde.12695

الاتاحة: https://hsrc.himmelfarb.gwu.edu/smhs_peds_facpubs/1684
https://doi.org/10.1111/pde.12695

المؤلفون: Rafaela Santini de Oliveira, Ricardo Alexandre Stock, Elcio Luiz Bonamigo, Nathan Lopes Pastro, Natalie Lucas Fernandes

المصدر: Arquivos Brasileiros de Oftalmologia, Vol 76, Iss 1, Pp 45-47 (2013)
Arquivos Brasileiros de Oftalmologia v.76 n.1 2013
Arquivos brasileiros de oftalmologia
Conselho Brasileiro de Oftalmologia (CBO)
instacron:CBO
Arquivos Brasileiros de Oftalmologia, Vol 76, Iss 1, Pp 45-47

مصطلحات موضوعية: Male, Intraocular pressure, Visual acuity, genetic structures, medicine.medical_treatment, Fistula, Glaucoma, lcsh:Ophthalmology, Medicine, Trabeculectomy, Anormalidades do olho, Glaucoma de ângulo aberto, Masculino, Computed tomography angiography, Relato de caso, Saúde ocular, Glaucoma open-angle/surgery, medicine.diagnostic_test, Idoso, Angiography, General Medicine, Syndrome, Middle Aged, Sclera, Humanos, Treatment Outcome, medicine.anatomical_structure, Varicose veins, Female, Pressão venosa, medicine.symptom, Ocular physiological processes, Glaucoma, Open-Angle, medicine.medical_specialty, Processos fisiológicos oculares, Síndrome, Varizes, Case report, Esclera, Humans, Angiografia, Intraocular Pressure, Aged, business.industry, Eye health, Sclera/blood supply, Veins/pathology, medicine.disease, eye diseases, Surgery, Ophthalmology, Eye abnormalities/diagnosis, lcsh:RE1-994, Venous pressure, sense organs, business, Venous Pressure

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd265654d4c31e94fd534cdf050995a5
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492013000100013&lng=en&tlng=en