المؤلفون: Rock, Nathalie M, Demaret, Tanguy, Stéphenne, Xavier, Scheers, Isabelle, Smets, Francoise, McLin, Valérie A, Boschi, Antonella, Sokal, Etienne M

المصدر: Journal of Pediatric Gastroenterology and Nutrition, 71 (5), 655-662 (2020-11)

مصطلحات موضوعية: Child, Humans, Alagille Syndrome/complications, Alagille Syndrome/diagnosis, Eye Diseases, Hereditary/complications, Hereditary/diagnosis, Intracranial Hypertension/complications, Intracranial Hypertension/diagnosis, Optic Nerve Diseases, Papilledema/etiology, Alagille Syndrome, Hereditary, Intracranial Hypertension, Papilledema, Pediatrics, Perinatology and Child Health, Gastroenterology, Human health sciences, Sciences de la santé humaine, Pédiatrie

العلاقة: https://journals.lww.com/10.1097/MPG.0000000000002883Test; urn:issn:0277-2116; urn:issn:1536-4801; https://orbi.uliege.be/handle/2268/291350Test; info:hdl:2268/291350; https://orbi.uliege.be/bitstream/2268/291350/1/20201113%20Intracranial_Hypertension_and_Papilledema_in_a.13.pdfTest; scopus-id:2-s2.0-85094589987; info:pmid:33093373

الإتاحة: https://doi.org/10.1097/MPG.0000000000002883Test
https://orbi.uliege.be/handle/2268/291350Test
https://orbi.uliege.be/bitstream/2268/291350/1/20201113%20Intracranial_Hypertension_and_Papilledema_in_a.13.pdfTest

المؤلفون: Habibi, I., Falfoul, Y., Todorova, M.G., Wyrsch, S., Vaclavik, V., Helfenstein, M., Turki, A., Matri, K.E., Matri, L.E., Schorderet, D.F.

المصدر: Genes, vol. 10, no. 12

مصطلحات موضوعية: Adolescent, Adult, Bestrophins/genetics, Child, Electrooculography, Electroretinography, Eye/physiopathology, Eye Diseases, Hereditary/diagnosis, Hereditary/genetics, Hereditary/physiopathology, Female, Genetic Association Studies, Humans, Male, Mutation, Pedigree, Retinal Diseases/diagnosis, Retinal Diseases/genetics, Retinal Diseases/physiopathology, Young Adult, ARB, BEST1, bestrophinopathy

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31766397; info:eu-repo/semantics/altIdentifier/eissn/2073-4425; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E5BC064295269; https://serval.unil.ch/notice/serval:BIB_E5BC06429526Test; urn:issn:2073-4425; https://serval.unil.ch/resource/serval:BIB_E5BC06429526.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E5BC064295269Test

الإتاحة: https://doi.org/10.3390/genes10120953Test
https://serval.unil.ch/notice/serval:BIB_E5BC06429526Test
https://serval.unil.ch/resource/serval:BIB_E5BC06429526.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E5BC064295269Test

المؤلفون: Regalado, Ellen S, Mellor-Crummey, Lauren, De Backer, Julie, Braverman, Alan C, Ades, Lesley, Benedict, Susan, Bradley, Timothy J, Brickner, M Elizabeth, Chatfield, Kathryn C, Child, Anne, Feist, Cori, Holmes, Kathryn W, Iannucci, Glen, Lorenz, Birgit, Mark, Paul, Morisaki, Takayuki, Morisaki, Hiroko, Morris, Shaine A, Mitchell, Anna L, Ostergaard, John R, Richer, Julie, Sallee, Denver, Shalhub, Sherene, Tekin, Mustafa, Estrera, Anthony, Musolino, Patricia, Yetman, Anji, Pyeritz, Reed, Milewicz, Dianna M

المصدر: Regalado , E S , Mellor-Crummey , L , De Backer , J , Braverman , A C , Ades , L , Benedict , S , Bradley , T J , Brickner , M E , Chatfield , K C , Child , A , Feist , C , Holmes , K W , Iannucci , G , Lorenz , B , Mark , P , Morisaki , T , Morisaki , H , Morris , S A , Mitchell , A L , Ostergaard , J R , Richer , J , Sallee , D , Shalhub ....

مصطلحات موضوعية: Actins/genetics, Adolescent, Adult, Aortic Aneurysm, Thoracic/diagnosis, Arginine/genetics, Child, Preschool, Ductus Arteriosus, Patent/diagnosis, Eye Diseases, Hereditary/diagnosis, Genetic Predisposition to Disease, Genetic Testing, Humans, Infant, Medical Records, Muscle, Smooth/diagnostic imaging, Mydriasis/diagnosis, Young Adult

العلاقة: https://pure.au.dk/portal/en/publications/dc5978ee-203d-4b25-9a1a-b40a24555c09Test

الإتاحة: https://doi.org/10.1038/gim.2017.245Test
https://pure.au.dk/portal/en/publications/dc5978ee-203d-4b25-9a1a-b40a24555c09Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6034999/pdf/nihms923952.pdfTest

المساهمون: College of Medicine, Dept. of Ophthalmology, Christopher Seungkyu Lee, Ikhyun Jun, Seung-il Choi, Ji Hwan Lee, Min Goo Lee, Sung Chul Lee, Eung Kweon Kim, Kim, Eung Kweon, Lee, Min Goo, Lee, Sung Chul, Lee, Seung Kyu, Lee, Ji Hwan, Jun, Ik Hyun, Choi, Seung Il

مصطلحات موضوعية: Aged, Bestrophins, Chloride Channels/genetics, Chloride Channels/metabolism, DNA/genetics, DNA Mutational Analysis, Electrooculography, Electroretinography, Eye Diseases, Hereditary/diagnosis, Hereditary/genetics, Hereditary/metabolism, Eye Proteins/genetics, Eye Proteins/metabolism, Female, Fluorescein Angiography, Fundus Oculi, Genes, Recessive, Genetic Testing, HEK293 Cells, Humans, Male, Middle Aged, Mutation, Pedigree, Phenotype, Retinal Diseases/diagnosis, Retinal Diseases/genetics, Retinal Diseases/metabolism

العلاقة: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; J01187; OAK-2015-06712; https://ir.ymlib.yonsei.ac.kr/handle/22282913/157069Test; T201505232; INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol.56(13) : 8141-8150, 2015

الإتاحة: https://doi.org/10.1167/iovs.15-18168Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/157069Test

المؤلفون: Rehman, A.U., Sepahi, N., Bedoni, N., Ravesh, Z., Salmaninejad, A., Cancellieri, F., Peter, V.G., Quinodoz, M., Mojarrad, M., Pasdar, A., Asad, A.G., Ghalamkari, S., Piran, M., Superti-Furga, A., Rivolta, C.

المصدر: Scientific reports, vol. 11, no. 1, pp. 19332

مصطلحات موضوعية: Consanguinity, DNA Mutational Analysis, Eye Diseases, Hereditary/diagnosis, Hereditary/genetics, Eye Proteins/genetics, Female, Gene Frequency, Guanylate Cyclase/genetics, Humans, Iran, Male, Mutation, Pedigree, Receptors, Cell Surface/genetics, Retinal Dystrophies/diagnosis, Retinal Dystrophies/genetics, Exome Sequencing

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34588515; info:eu-repo/semantics/altIdentifier/eissn/2045-2322; https://serval.unil.ch/notice/serval:BIB_F47F704E68B0Test; urn:issn:2045-2322

الإتاحة: https://doi.org/10.1038/s41598-021-98677-3Test
https://serval.unil.ch/notice/serval:BIB_F47F704E68B0Test

المؤلفون: Liu, Betty, Murphy, Rory K, Mercer, Deanna, Tychsen, Lawrence, Smyth, Matthew D

المصدر: Neurosurgery Articles

مصطلحات موضوعية: Adolescent, Child, Preschool, Diagnosis, Differential, Eye Diseases, Hereditary (diagnosis, epidemiology), Female, Humans, Incidence, Male, Optic Disk (pathology), Optic Nerve Diseases (diagnosis, Papilledema (diagnosis), Pseudotumor Cerebri (diagnosis), Retrospective Studies, Young Adult

العلاقة: https://scholar.barrowneuro.org/neurosurgery/1488Test

الإتاحة: https://scholar.barrowneuro.org/neurosurgery/1488Test

المؤلفون: Biazim, Débora, Casagrande, Diego, Kataguiri, Paula

المصدر: Revista Brasileira de Oftalmologia, Volume: 78, Issue: 4, Pages: 268-270, Published: 12 AUG 2019

مصطلحات موضوعية: Estroma corneano, Corneal dystrophies, hereditary/diagnosis, Corneal stroma, genetic structures, Microscopy, confocal, Distrofias hereditárias da córnea/diagnóstico, sense organs, Microscopia confocal, eye diseases

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______608::16f0e7d9f381029e5f86bca2a59de57bTest
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802019000400268&lng=en&tlng=enTest

المؤلفون: Golnik, K C

المصدر: Neurology

مصطلحات موضوعية: Diagnosis, Differential, Eye Diseases, Hereditary (diagnosis), Humans, Magnetic Resonance Imaging, Optic Nerve (abnormalities, pathology), Optic Nerve Diseases (congenital, diagnosis), Visual Acuity

العلاقة: https://scholar.barrowneuro.org/neurology/1557Test; https://doi.org/10.1097/00055735-199812000-00004Test

الإتاحة: https://doi.org/10.1097/00055735-199812000-00004Test
https://scholar.barrowneuro.org/neurology/1557Test

المؤلفون: Hald, J. D., Folkestad, L., Swan, C. Z., Wanscher, J., Schmidt, M., Gjørup, H., Haubek, D., Leonhard, C. H., Larsen, D. A., Hjortdal, J., Harsløf, T., Duno, M., Lund, A. M., Jensen, J. E.B., Brixen, K., Langdahl, B.

المصدر: Hald , J D , Folkestad , L , Swan , C Z , Wanscher , J , Schmidt , M , Gjørup , H , Haubek , D , Leonhard , C H , Larsen , D A , Hjortdal , J , Harsløf , T , Duno , M , Lund , A M , Jensen , J E B , Brixen , K & Langdahl , B 2018 , ' Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults ' , Osteoporosis International , vol. 29 , no. 12 , pp. ....

مصطلحات موضوعية: Corneal thickness, Dentinogenesis imperfecta, Hearing loss, Non-skeletal phenotype, Osteogenesis imperfecta, Humans, Middle Aged, Male, Hearing Loss/diagnosis, Young Adult, Denmark/epidemiology, Phenotype, Osteogenesis Imperfecta/complications, Adult, Female, Aged, Dentinogenesis Imperfecta/diagnosis, Eye Diseases, Hereditary/diagnosis

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/7fccd8dc-3e26-4591-94f1-b9dacc7f3605Test

الإتاحة: https://doi.org/10.1007/s00198-018-4663-xTest
https://portal.findresearcher.sdu.dk/da/publications/7fccd8dc-3e26-4591-94f1-b9dacc7f3605Test

المؤلفون: Garcia, Jose Mauricio Botto de Barros, Isaac, David Leonardo Cruvinel, Sardeiro, Tainara, Aquino, Érika, Avila, Marcos

المصدر: Arquivos Brasileiros de Oftalmologia, Volume: 80, Issue: 5, Pages: 321-323, Published: OCT 2017

مصطلحات موضوعية: Eye diseases, hereditary/diagnosis, Retinal diseases/genetics, genetic structures, Tomografia de coerência óptica, Retinal diseases/diagnosis, Tomography, optical coherence, Doenças retinianas/genética, Eye diseases, hereditary/genetics, Oftalmopatias hereditárias/genética, sense organs, Oftalmopatias hereditárias/diagnóstico, eye diseases, Doenças retinianas/diagnóstico

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______608::c4b5afadc96833ef3776cf4a45131960Test
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000500012&lng=en&tlng=enTest