المساهمون: Yuri Seo, Hyun Taek Lim, Byung Joo Lee, Jinu Han, Seo, Yuri

مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities / genetics, Adolescent, Humans, Male, Metalloendopeptidases / genetics, Mutation, Optic Atrophy* / diagnosis, Optic Atrophy* / genetics, Optic Atrophy* / pathology, Optic Atrophy, Autosomal Dominant, Paraplegia / genetics, Phenotype, Spastic Paraplegia, Hereditary* / complications, Hereditary* / diagnosis, Hereditary* / genetics, SPG7, autosomal dominant optic atrophy, infantile nystagmus syndrome

العلاقة: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; J00091; OAK-2023-00601; OAK-2023-00602; https://ir.ymlib.yonsei.ac.kr/handle/22282913/194059Test; T202301866; AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Vol.191(2) : 582-585, 2023-02

الإتاحة: https://doi.org/10.1002/ajmg.a.63037Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/194059Test

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: Schierbeck, Juliane, Vestergaard, Tine, Bygum, Anette

المصدر: Schierbeck , J , Vestergaard , T & Bygum , A 2019 , ' Skin cancer associated genodermatoses : A literature review ' , Acta Dermato-Venereologica , vol. 99 , no. 4 , pp. 360-369 . https://doi.org/10.2340/00015555-3123Test

مصطلحات موضوعية: Basal cell carcinoma, Genodermatoses, Hereditary skin cancer, Skin cancer, Squamous cell carcinoma, Humans, Middle Aged, Child, Preschool, Skin/pathology, Male, Biomarkers, Tumor/genetics, Skin Neoplasms/diagnosis, Young Adult, Adult, Female, Carcinoma, Squamous Cell/diagnosis, Basal Cell/diagnosis, Genetic Predisposition to Disease, Risk Assessment, Neoplastic Syndromes, Hereditary/diagnosis, Risk Factors, Treatment Outcome, Melanoma/diagnosis, Phenotype, Adolescent, Mutation

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/d7528101-a0a5-4c64-991c-50ad4060b385Test

الإتاحة: https://doi.org/10.2340/00015555-3123Test
https://portal.findresearcher.sdu.dk/da/publications/d7528101-a0a5-4c64-991c-50ad4060b385Test
https://findresearcher.sdu.dk/ws/files/149348345/Skin_cancer_associated_genodermatoses.pdfTest

المؤلفون: Petar Šenjug, Tamara Nikuševa, null Martić, Marija Šenjug Perica, Maja Oroz, Matija Horaček, Kristina Gotovac, null Jerčić, Krešimir Galešić, Danica Galešić, null Ljubanović

المصدر: Croatian Medical Journal
Volume 62
Issue 3

مصطلحات موضوعية: Collagen Type IV, Pathology, medicine.medical_specialty, Nephritis, Hereditary* / diagnosis, Renal function, Nephritis, Hereditary, Collagen Type IV* / genetics, urologic and male genital diseases, Nephropathy, Hematuria / genetics, Focal segmental glomerulosclerosis, Biopsy, Humans, Medicine, Alport syndrome, Hematuria, Kidney, Proteinuria, medicine.diagnostic_test, urogenital system, business.industry, Nephritis, Hereditary* / genetics, General Medicine, COL4A4, medicine.disease, female genital diseases and pregnancy complications, Pedigree, medicine.anatomical_structure, Mutation, medicine.symptom, business, Nephritis, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::775e86cbb8ed3c179af55cfd2f64b3b1Test
https://doi.org/10.3325/cmj.2021.62.204Test

المؤلفون: Mo, Alisa, Saffari, Afshin, Posey, Jennifer E, Alter, Katharine E, Toro, Camilo, Blackstone, Craig, Soldatos, Ariane G, Christie, Michelle, Schüle, Rebecca, Ebrahimi-Fakhari, Darius, Kellner, Melanie, Döbler-Neumann, Marion, Jordan, Catherine, Srivastava, Siddharth, Zhang, Bo, Sahin, Mustafa, Fink, John K, Smith, Linsley

المصدر: Movement disorders 37(12), 2440-2446 (2022). doi:10.1002/mds.29225

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Child, Preschool, Humans, Cross-Sectional Studies, Muscle Spasticity, Mutation, Phenotype, Spastic Paraplegia, Hereditary: genetics, Hereditary: diagnosis, Spastin: genetics, Adolescent, Young Adult, Adult, SPAST, cerebral palsy, childhood-onset movement disorders, hereditary spastic paraplegia, neurogenetics

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:36103453; info:eu-repo/semantics/altIdentifier/issn/0885-3185; info:eu-repo/semantics/altIdentifier/issn/1531-8257; https://pub.dzne.de/record/165247Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01540%22Test

الإتاحة: https://doi.org/10.1002/mds.29225Test
https://pub.dzne.de/record/165247Test
https://pub.dzne.de/search?p=id:%22DZNE-2022-01540%22Test

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: Louati, Y., Vaclavik, V., Moulin, A., Schorderet, D., Munier, F.L., Viet Tran, H.

المصدر: Ophthalmic genetics, vol. 42, no. 6, pp. 773-779

مصطلحات موضوعية: Adult, Aged, 80 and over, Corneal Dystrophies, Hereditary/diagnosis, Hereditary/genetics, Hereditary/physiopathology, Crystallization, Cytochrome P450 Family 4/genetics, Female, Humans, Lens Cortex, Crystalline/pathology, Middle Aged, Mutation, Optical Imaging, Retinal Diseases/diagnosis, Retinal Diseases/genetics, Retinal Diseases/physiopathology, Slit Lamp Microscopy, Tomography, Optical Coherence, Visual Acuity/physiology, Bietti, CYP4V2, corneoretinal dystrophy, crystals, lens

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34310258; info:eu-repo/semantics/altIdentifier/eissn/1744-5094; https://serval.unil.ch/notice/serval:BIB_422F0C6C589FTest; urn:issn:1381-6810

الإتاحة: https://doi.org/10.1080/13816810.2021.1952620Test
https://serval.unil.ch/notice/serval:BIB_422F0C6C589FTest

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: Bis-Brewer, Dana M, Gan-Or, Ziv, Tarnopolsky, Mark, Boycott, Kym M, Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Cheng, Andrew, Lloyd, Thomas E, Rouleau, Guy, Schüle, Rebecca, Züchner, Stephan, Sleiman, Patrick, Rodriguez, Aixa, Bacha, Alexa, Kosikowski, Ashley, Wood, Beth, McCray, Brett, Blume, Brianna, Siskind, Carly, Sumner, Charlotte, Calabrese, Daniela, Walk, David, Consortium, Inherited Neuropathy, Vujovic, Dragan, Park, Eun, Muntoni, Francesco, Donlevy, Gabrielle, Acsadi, Gyula, Day, John, Burns, Joshua, Li, Jun, Krajewski, Karen, Eichinger, Kate, Hakonarson, Hakon, Cornett, Kayla, Mullen, Krista, Perez, Laura, Gutmann, Laurie, Barrett, Maria, Saporta, Mario, Skorupinska, Mariola, Grant, Natalie, Bray, Paula, Seyedsadjadi, Reza, Fazal, Sarah, Zuccarino, Riccardo, Finkel, Richard, Lewis, Richard, Yum, Sabrina, Hilbert, Sarah, Thomas, Simone, Behrens-Spraggins, Steffen, Jones, Tara, Grider, Tiffany, Estilow, Tim, Courel, Steve, Fridman, Vera, Reilly, Mary M, Shy, Michael E, Bacon, Chelsea J, Feely, Shawna M E, Rossor, Alexander M, Herrmann, David N, Cintra, Vivian, Tao, Feifei, Estiar, Mehrdad A

المصدر: Genetics in medicine 22(12), 2114 - 2119 (2020). doi:10.1038/s41436-020-0924-0

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Alleles, Charcot-Marie-Tooth Disease: diagnosis, Charcot-Marie-Tooth Disease: genetics, Humans, Mutation, Spastic Paraplegia, Hereditary: diagnosis, Hereditary: genetics, Exome Sequencing, Charcot–Marie–Tooth disease, hereditary spastic paraplegia, inherited axonopathy, mutational burden, oligogenic inheritance

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/1530-0366; info:eu-repo/semantics/altIdentifier/issn/1098-3600; info:eu-repo/semantics/altIdentifier/pmid/pmid:32741968; https://pub.dzne.de/record/154375Test; https://pub.dzne.de/search?p=id:%22DZNE-2021-00228%22Test

الإتاحة: https://doi.org/10.1038/s41436-020-0924-0Test
https://pub.dzne.de/record/154375Test
https://pub.dzne.de/search?p=id:%22DZNE-2021-00228%22Test

المؤلفون: Dudakova, L., Evans, C.J., Pontikos, N., Hafford-Tear, N.J., Malinka, F., Skalicka, P., Horinek, A., Munier, F.L., Voide, N., Studeny, P., Vanikova, L., Kubena, T., Rojas Lopez, K.E., Davidson, A.E., Hardcastle, A.J., Tuft, S.J., Liskova, P.

المصدر: Experimental eye research, vol. 182, pp. 160-166

مصطلحات موضوعية: Adolescent, Adult, Aged, Base Sequence, Child, Preschool, Corneal Dystrophies, Hereditary/diagnosis, Hereditary/genetics, Hereditary/metabolism, DNA/genetics, DNA Mutational Analysis, Exons, Heterozygote, High-Throughput Nucleotide Sequencing, Humans, Middle Aged, Mutation, Pedigree, Sequence Deletion, Young Adult, Zinc Finger E-box-Binding Homeobox 1/genetics, Zinc Finger E-box-Binding Homeobox 1/metabolism, Zinc Fingers, Aberrant splicing, Breakpoint mapping, Exome, Genome, Massively parallel sequencing, Posterior polymorphous corneal dystrophy type 3

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30851240; info:eu-repo/semantics/altIdentifier/eissn/1096-0007; https://serval.unil.ch/notice/serval:BIB_11F7CF94E637Test; https://doi.org/10.1016/j.exer.2019.03.002Test; urn:issn:0014-4835

الإتاحة: https://doi.org/10.1016/j.exer.2019.03.002Test
https://serval.unil.ch/notice/serval:BIB_11F7CF94E637Test