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1دورية أكاديمية
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 -
2دورية أكاديمية
المؤلفون: Lalloo, Fiona, Kulkarni, Anju, Chau, Cindy, Nielsen, Maartje, Sheaff, Michael, Steele, Jeremy, van Doorn, Remco, Wadt, Karin, Hamill, Monica, Torr, Beth, Tischkowitz, Marc, Hanson, Helen
المصدر: Lalloo , F , Kulkarni , A , Chau , C , Nielsen , M , Sheaff , M , Steele , J , van Doorn , R , Wadt , K , Hamill , M , Torr , B , Tischkowitz , M , Hanson , H & Delphi respondents 2023 , ' Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome ' , European Journal of Human Genetics , vol. 31 , no. 11 , pp. 1261-1269 . https://doi.org/10.1038/s41431-023-01448-zTest
مصطلحات موضوعية: Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Kidney Neoplasms/genetics, Melanoma/genetics, Mesothelioma/diagnosis, Neoplastic Syndromes, Hereditary/diagnosis, Tumor Suppressor Proteins/genetics, Ubiquitin Thiolesterase/genetics
الإتاحة: https://doi.org/10.1038/s41431-023-01448-zTest
https://pure.au.dk/portal/en/publications/0142e746-a7c9-4a88-93f4-19434892dc20Test
http://www.scopus.com/inward/record.url?scp=85168608297&partnerID=8YFLogxKTest -
3دورية أكاديمية
المؤلفون: Drouet, Christian, López-Lera, Alberto, Ghannam, Arije, López-Trascasa, Margarita, Cichon, Sven, Ponard, Denise, Parsopoulou, Faidra, Grombirikova, Hana, Freiberger, Tomáš, Rijavec, Matija, Veronez, Camila, L, Pesquero, João, Bosco, Germenis, Anastasios, E
المساهمون: Institut Cochin Departement Infection, immunité, inflammation, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University Grenoble Alpes, Grenoble University Hospital, Hospital La Paz Institute for Health Research (IdiPAZ), CIBERER U-754, Madrid, KininX, University Grenoble Alpes, Hospital Universitario La Paz, Université de Bâle = University of Basel = Basel Universität (Unibas), Grenoble University Hospital, Grenoble, France, CeMIA, Larissa, Masaryk University, Centre for Cardiovascular Surgery and Transplantation Brno and Medical Faculty, University Clinic of Respiratory and Allergic Diseases Golnik, Federal University of São Paolo, Department of Biophysics, Centre for Research and Genetic Diagnosis of Genetic Diseases, University of Thessaly Larissa, Ministry of Health, Czech Republic, grant no.NV18-05-00330, Ministry of Education, Youth and Sports, Czech Republic, grant no.MUNI/A/1099/2019
المصدر: ISSN: 2673-6101 ; Frontiers in Allergy ; https://hal.univ-grenoble-alpes.fr/hal-04464374Test ; Frontiers in Allergy, 2022, 3, pp.835503. ⟨10.3389/falgy.2022.835503⟩.
مصطلحات موضوعية: C1-INH-HAE, C1 Inhibitor, SERPING1 gene, genetic variation, serpin function, serpinopathy, angioedema, hereditary-diagnosis, C1-INH-HAE C1 Inhibitor SERPING1 gene genetic variation serpin function serpinopathy angioedema hereditary-diagnosis, [SDV]Life Sciences [q-bio]
العلاقة: hal-04464374; https://hal.univ-grenoble-alpes.fr/hal-04464374Test; https://hal.univ-grenoble-alpes.fr/hal-04464374/documentTest; https://hal.univ-grenoble-alpes.fr/hal-04464374/file/2203Drouet_SERPING1%20%26%20C1INH%20rev_FrontAllergy.pdfTest
الإتاحة: https://doi.org/10.3389/falgy.2022.835503Test
https://hal.univ-grenoble-alpes.fr/hal-04464374Test
https://hal.univ-grenoble-alpes.fr/hal-04464374/documentTest
https://hal.univ-grenoble-alpes.fr/hal-04464374/file/2203Drouet_SERPING1%20%26%20C1INH%20rev_FrontAllergy.pdfTest -
4دورية أكاديمية
المؤلفون: Ruutila, Minna, Fagerholm, Per, Lagali, Neil, Hjortdal, Jesper, Bram, Thue, Yamaguchi, Takefumi, Moilanen, Jukka, Krootila, Kari, Kivelä, Tero T
المصدر: Ruutila , M , Fagerholm , P , Lagali , N , Hjortdal , J , Bram , T , Yamaguchi , T , Moilanen , J , Krootila , K & Kivelä , T T 2024 , ' Does Corneal Topography Using 3-Dimensional Optical Coherence Tomography Suggest Different Subtypes of Terrien Marginal Degeneration? ' , Cornea , vol. 43 , no. 5 . https://doi.org/10.1097/ICO.0000000000003409Test
مصطلحات موضوعية: Astigmatism, Cornea, Corneal Dystrophies, Hereditary/diagnosis, Corneal Topography/methods, Humans, Tomography, Optical Coherence/methods
الإتاحة: https://doi.org/10.1097/ICO.0000000000003409Test
https://pure.au.dk/portal/en/publications/efff2dbd-0668-45ed-a03e-d7c7f20fa5c9Test -
5دورية أكاديمية
المؤلفون: Laßmann, Christian, Ilg, Winfried, Schneider, Marc, Völker, Maximilian, Haeufle, Daniel F B, Schüle, Rebecca, Giese, Martin, Synofzik, Matthis, Schöls, Ludger, Rattay, Tim
المصدر: Movement disorders 37(12), 2417-2426 (2022). doi:10.1002/mds.29199
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Humans, Spastic Paraplegia, Hereditary: diagnosis, Neurodegenerative Diseases, Paraplegia, Gait: physiology, Disease Progression, Spastin, SPG4, gait analysis, hereditary spastic paraplegia, motor biomarker, prodromal
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/0885-3185; info:eu-repo/semantics/altIdentifier/issn/1531-8257; info:eu-repo/semantics/altIdentifier/pmid/pmid:36054444; https://pub.dzne.de/record/165255Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01548%22Test
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6دورية أكاديمية
المؤلفون: Kessler, Christoph, Serna-Higuita, Lina Maria, Schöls, Ludger, Martus, Peter, Schüle, Rebecca, Wilke, Carlo, Rattay, Tim, Hengel, Holger, Reichbauer, Jennifer, Stransky, Elke, Leyva-Gutiérrez, Alejandra, Mengel, David, Synofzik, Matthis
المصدر: Annals of Clinical and Translational Neurology 9(3), 326 - 338 (2022). doi:10.1002/acn3.51518
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Biomarkers, Cross-Sectional Studies, Humans, Intermediate Filaments, Longitudinal Studies, Paraplegia, Spastic Paraplegia, Hereditary: diagnosis
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/2328-9503; info:eu-repo/semantics/altIdentifier/pmid/pmid:35171517; https://pub.dzne.de/record/163603Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-00349%22Test
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7دورية أكاديمية
المؤلفون: Kehrer-Sawatzki, Hildegard, Cooper, David N.
المصدر: http://lobid.org/resources/99370671251406441Test#!, 141(2):177-191.
مصطلحات موضوعية: Infant, Newborn [MeSH], Neurofibromatosis 1/diagnosis [MeSH], Neurofibromatosis 1/genetics [MeSH], Female [MeSH], Neurofibromatosis 1/pathology [MeSH], Genes, Neurofibromatosis 1 [MeSH], Colorectal Neoplasms/diagnosis [MeSH], Humans [MeSH], Cafe-au-Lait Spots/diagnosis [MeSH], Molecular Medicine, Diagnosis, Differential [MeSH], Mosaicism [MeSH], Neoplastic Syndromes, Hereditary/diagnosis [MeSH], Infant [MeSH], Male [MeSH], Metabolic Diseases, Brain Neoplasms/diagnosis [MeSH], Gene Function, Review, Child [MeSH], Genetic Variation [MeSH], Child, Preschool [MeSH], Human Genetics
العلاقة: https://repository.publisso.de/resource/frl:6446820Test; https://doi.org/10.1007/s00439-021-02410-zTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8807470Test/
الإتاحة: https://doi.org/10.1007/s00439-021-02410-zTest
https://repository.publisso.de/resource/frl:6446820Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8807470Test/ -
8دورية أكاديمية
المؤلفون: Ripperger, Tim, Evans, D Gareth, Malkin, David, Kratz, Christian P
المصدر: Ripperger , T , Evans , D G , Malkin , D & Kratz , C P 2021 , ' Choose and stay on one out of two paths : distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer ' , Familial Cancer , vol. 20 , no. 4 , pp. 289-291 . https://doi.org/10.1007/s10689-021-00228-2Test
مصطلحات موضوعية: Genetic Predisposition to Disease, Genetic Testing, Humans, Neoplasms/diagnosis, Neoplastic Syndromes, Hereditary/diagnosis
الإتاحة: https://doi.org/10.1007/s10689-021-00228-2Test
https://research.manchester.ac.uk/en/publications/3dee1490-daf3-4ee5-bd92-61f5799dd680Test -
9دورية أكاديمية
المؤلفون: Waespe, N., Belle, F.N., Redmond, S., Schindera, C., Spycher, B.D., Rössler, J., Ansari, M., Kuehni, C.E.
المساهمون: Swiss Paediatric Oncology Group (SPOG), Ansari, M., Beck-Popovic, M., Bourquin, J.P., Brazzola, P., Greiner, J., Rössler, J., Scheinemann, K., Schilling, F., von der Weid, N.
المصدر: European journal of cancer, vol. 145, pp. 71-80
مصطلحات موضوعية: Adolescent, Age Factors, Antineoplastic Agents/adverse effects, Cancer Survivors, Child, Preschool, Female, Hematopoietic Stem Cell Transplantation/adverse effects, Humans, Incidence, Infant, Newborn, Male, Neoplasms, Second Primary/diagnosis, Second Primary/epidemiology, Neoplastic Syndromes, Hereditary/diagnosis, Hereditary/epidemiology, Radiotherapy/adverse effects, Registries, Risk Assessment, Risk Factors, Switzerland/epidemiology, Young Adult, Adolescent medicine, Early detection of cancer, Genetic counselling, Genetic testing, Hereditary neoplastic syndromes
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33423008; info:eu-repo/semantics/altIdentifier/eissn/1879-0852; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_1ED8E884C0769; https://serval.unil.ch/notice/serval:BIB_1ED8E884C076Test; urn:issn:0959-8049; https://serval.unil.ch/resource/serval:BIB_1ED8E884C076.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1ED8E884C0769Test
الإتاحة: https://doi.org/10.1016/j.ejca.2020.11.042Test
https://serval.unil.ch/notice/serval:BIB_1ED8E884C076Test
https://serval.unil.ch/resource/serval:BIB_1ED8E884C076.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1ED8E884C0769Test -
10دورية أكاديمية
المؤلفون: Waespe, Nicolas, Belle, Fabiën, Redmond, Shelagh, Schindera, Christina, Spycher, Ben D, Rössler, Jochen, Ansari Djaberi, Marc Georges, Kuehni, Claudia E, the Swiss Paediatric Oncology Group (SPOG)
المصدر: ISSN: 0959-8049 ; European journal of cancer, vol. 145 (2021) p. 71-80.
مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Adolescent medicine, Cancer survivors, Early detection of cancer, Genetic counselling, Genetic testing, Hereditary neoplastic syndromes, Neoplasms, Pediatrics, Second primary neoplasms, Swiss childhood cancer registry, Adolescent, Age Factors, Antineoplastic Agents / adverse effects, Child, Preschool, Female, Hematopoietic Stem Cell Transplantation / adverse effects, Humans, Incidence, Infant, Newborn, Male, Second Primary / diagnosis, Second Primary / epidemiology, Neoplastic Syndromes, Hereditary / diagnosis, Hereditary / epidemiology, Radiotherapy / adverse effects, Registries
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33423008; https://archive-ouverte.unige.ch/unige:156579Test; unige:156579
