المؤلفون: Christian Drouet, Alberto López-Lera, Arije Ghannam, Margarita López-Trascasa, Sven Cichon, Denise Ponard, Faidra Parsopoulou, Hana Grombirikova, Tomáš Freiberger, Matija Rijavec, Camila L. Veronez, João Bosco Pesquero, Anastasios E. Germenis

مصطلحات موضوعية: Medicine, Molecular Biology, Immunology, Allergy, Innate Immunity, C1-INH-HAE, C1 Inhibitor, SERPING1 gene, genetic variation, serpin function, serpinopathy, angioedema, hereditary–diagnosis

العلاقة: https://figshare.com/articles/dataset/Table_2_SERPING1_Variants_and_C1-INH_Biological_Function_A_Close_Relationship_With_C1-INH-HAE_DOCX/19471016Test

الإتاحة: https://doi.org/10.3389/falgy.2022.835503.s002Test
https://figshare.com/articles/dataset/Table_2_SERPING1_Variants_and_C1-INH_Biological_Function_A_Close_Relationship_With_C1-INH-HAE_DOCX/19471016Test

المؤلفون: Santiago - Cabán, Luis, Cruz, Cristóbal, Izquierdo, Natalio J.

المصدر: Revista Brasileira de Oftalmologia. December 2008 67(6)

مصطلحات موضوعية: Nephritis, hereditary/complications, Nephritis, hereditary/diagnosis, Leiomyomatosis/diagnosis, Cataract/etiology, Cataract extraction, Eye manifestations

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802008000600008Test

المؤلفون: Sauer Mikkelsen, Carsten, Bakke Arvesen, Kristian, Ringe-Holmgren, Helene

المصدر: Månedsskrift for Almen Praksis. 93(3):211

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: Magalhães, Otávio de Azevedo, Rymer, Samuel, Marinho, Diane Ruschel, Kwitko, Sérgio, Cardoso, Isabel Habeyche, Kliemann, Lúcia

المصدر: Arquivos Brasileiros de Oftalmologia. October 2012 75(5)

مصطلحات موضوعية: Corneal dystrophies, hereditary/diagnosis, Tomography, optical coherence/methods, Corneal opacity, Case report, Humans, Child

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492012000500013Test

المؤلفون: Bach, R O, Bygum, A

المصدر: Ugeskrift for Laeger. 171(5):333

المؤلفون: Nicolas Waespe, Marc Ansari, Jean-Pierre Bourquin, Maja Beck-Popovic, Fabiën N. Belle, Jochen Rössler, Shelagh Redmond, Ben D. Spycher, Nicolas von der Weid, Jeanette Greiner, Katrin Scheinemann, Claudia E. Kuehni, Christina Schindera, Freimut H. Schilling, Pierluigi Brazzola

المساهمون: University of Zurich, Kuehni, Claudia E

المصدر: European journal of cancer, Vol. 145 (2021) pp. 71-80
Waespe, Nicolas; Belle, Fabiën N.; Redmond, Shelagh; Schindera, Christina; Spycher, Ben D.; Rössler, Jochen; Ansari, Marc; Kuehni, Claudia E. (2021). Cancer predisposition syndromes as a risk factor for early second primary neoplasms after childhood cancer-A national cohort study. European journal of cancer, 145, pp. 71-80. Elsevier 10.1016/j.ejca.2020.11.042 <http://dx.doi.org/10.1016/j.ejca.2020.11.042Test>

مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Genetic testing, Swiss childhood cancer registry, Cancer survivors, Second primary neoplasms, Pediatrics, 0302 clinical medicine, Cancer Survivors, Neoplasms, Second Primary / diagnosis, Risk Factors, Adolescent medicine, Neoplasms, Medicine, Cumulative incidence, 1306 Cancer Research, Registries, 610 Medicine & health, Child, education.field_of_study, ddc:618, Neoplastic Syndromes, Hereditary / epidemiology, Incidence (epidemiology), Incidence, Hazard ratio, Hematopoietic Stem Cell Transplantation, Age Factors, Neoplasms, Second Primary, Neoplasms, Second Primary / epidemiology, Oncology, 030220 oncology & carcinogenesis, Early detection of cancer, Child, Preschool, Neoplastic Syndromes, Hereditary / diagnosis, Female, 2730 Oncology, Switzerland, 360 Social problems & social services, Cohort study, medicine.medical_specialty, Adolescent, Population, Antineoplastic Agents, Risk Assessment, Switzerland / epidemiology, 03 medical and health sciences, Young Adult, Neoplastic Syndromes, Hereditary, Internal medicine, Humans, Risk factor, education, Radiotherapy / adverse effects, Genetic counselling, Radiotherapy, business.industry, Hereditary neoplastic syndromes, Antineoplastic Agents / adverse effects, Hematopoietic Stem Cell Transplantation / adverse effects, Infant, Newborn, Cancer, Infant, medicine.disease, Transplantation, 030104 developmental biology, 10036 Medical Clinic, business

وصف الملف: PIIS0959804920313794.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cacba93b3aead1ce124526b0cc6cbddaTest
https://doi.org/10.5167/uzh-213020Test

المؤلفون: Sanaker, P S, Lindland, S, Rekeland, F, Bindoff, L A

المصدر: Tidsskrift for Den Norske Laegeforening. 127(23):3085

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