المؤلفون: Soussi, Thierry, Onderzoeker, Leroy, Bernard, Onderzoeker, Taschner, Peter, Lector

المساهمون: Genome-based Health, Hogeschool Leiden@@@Faculteit Techniek

المصدر: Human Mutation. Volume 35(Issue 6, Special Issue: The TP53 Gene Network in a Post‐Genomic Era):766-778

مصطلحات موضوعية: recommendations, cancer, mutation nomenclature, p53, TP53, annotation

URL الوصول: https://surfsharekit.nl/public/80b43bdd-dfae-40cc-aa3d-81669767ec90
https://surfsharekit.nl/objectstore/d26b9416-5c82-484b-aa1d-99e845fbaedf

الاتاحة: http://www.hbo-kennisbank.nl/en/page/hborecord.view/?uploadId=sharekit_hsleiden:oai:surfsharekit.nl:80b43bdd-dfae-40cc-aa3d-81669767ec90

المؤلفون: Keppens, Cleo, Tack, Veronique, Dufraing, Kelly, Rouleau, Etienne, Ligtenberg, Marjolijn J. L., Schuuring, Ed, Dequeker, Elisabeth M. C.

المصدر: Keppens , C , Tack , V , Dufraing , K , Rouleau , E , Ligtenberg , M J L , Schuuring , E & Dequeker , E M C 2020 , ' Variation in nomenclature of somatic variants for selection of oncological therapies : Can we reach a consensus soon? ' , Human Mutation , vol. 41 , no. 1 , pp. 7-16 . https://doi.org/10.1002/humu.23926

مصطلحات موضوعية: biomarker variant reporting, colorectal cancer, external quality assessment, HGVS recommendations, lung cancer, nomenclature, proficiency testing, round robin, MUTATION NOMENCLATURE, SEQUENCE VARIANTS, RECOMMENDATIONS, BRCA1

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/3ee3e64b-339f-4a98-ae18-a086585ec4d5

الاتاحة: https://hdl.handle.net/11370/3ee3e64b-339f-4a98-ae18-a086585ec4d5
https://research.rug.nl/en/publications/3ee3e64b-339f-4a98-ae18-a086585ec4d5
https://doi.org/10.1002/humu.23926
https://pure.rug.nl/ws/files/101946961/Keppens_et_al_2019_Human_Mutation.pdf

المؤلفون: Girardet, A, Viart, V, Plaza, S, Daina, G, De Rycke, M, Des Georges, M, Fiorentino, F, Harton, G, Ishmukhametova, A, Navarro, J, Raynal, C, Renwick, P, Saguet, F, Schwarz, M, SenGupta, S, Tzetis, M, Roux, A-F, Claustres, M

المصدر: European Journal Of Human Genetics , 2016 (24) pp. 469-478. (2015)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, Eshre Pgd Consortium, External Quality Assessment, Conductance Regulator Gene, Cftr-related Disorders, Mutation Nomenclature, Clinical-application, Vas-deferens, Recommendations, Amplification, Experience

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1480575/1/Girardet_The%20improvement%20of%20the%20best%20practice%20guidelines%20for%20preimplantation%20genetic%20diagnosis%20of%20cystic%20fibrosisVoR.pdf; https://discovery.ucl.ac.uk/id/eprint/1480575/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1480575/1/Girardet_The%20improvement%20of%20the%20best%20practice%20guidelines%20for%20preimplantation%20genetic%20diagnosis%20of%20cystic%20fibrosisVoR.pdf
https://discovery.ucl.ac.uk/id/eprint/1480575/

المؤلفون: Elisabeth Dequeker, Kelly Dufraing, Etienne Rouleau, Marjolijn J. L. Ligtenberg, Ed Schuuring, Cleo Keppens, Véronique Tack

المساهمون: Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON)

المصدر: Human Mutation, 41(1), 7-16. Wiley
Human Mutation
Human Mutation, 41, 1, pp. 7-16
Human Mutation, 41, 7-16

مصطلحات موضوعية: Quality Control, medicine.medical_specialty, Quality Assurance, Health Care, Clinical Decision-Making, colorectal cancer, Biology, Medical Oncology, RECOMMENDATIONS, biomarker variant reporting, 03 medical and health sciences, Special Article, Neoplasms, Terminology as Topic, External quality assessment, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Genetics, Proficiency testing, medicine, Biomarkers, Tumor, SEQUENCE VARIANTS, Humans, Medical physics, Genetic Predisposition to Disease, round robin, Genetics (clinical), Selection (genetic algorithm), 030304 developmental biology, Genetics & Heredity, 0303 health sciences, Science & Technology, proficiency testing, 030305 genetics & heredity, Disease Management, Genetic Variation, High-Throughput Nucleotide Sequencing, Reproducibility of Results, external quality assessment, BRCA1, lung cancer, HGVS recommendations, nomenclature, Guideline Adherence, Life Sciences & Biomedicine, MUTATION NOMENCLATURE

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d76613c442a574b34dde38d25467b619
https://lirias.kuleuven.be/handle/123456789/644730

المؤلفون: Peter E.M. Taschner, Thierry Soussi, B. Leroy

المصدر: Human Mutation, Volume 35(Issue 6, Special Issue: The TP53 Gene Network in a Post-Genomic Era), 766-778

مصطلحات موضوعية: p53, Gene isoform, Locus (genetics), Biology, Germline, DNA sequencing, Exon, Neoplasms, Databases, Genetic, Genetics, Humans, cancer, TP53, Promoter Regions, Genetic, Gene, mutation nomenclature, Genetics (clinical), Genome, Human, High-Throughput Nucleotide Sequencing, Exons, Introns, annotation, Mutation, recommendations, Human genome, Tumor Suppressor Protein p53, Reference genome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d843f574041c4f30a2601b5cabd24b78
https://doi.org/10.1002/humu.22561

المؤلفون: Zhu, Li, Yu, Lei, Wang, Chen-Dan, Lv, Ji-Cheng, Li, Gui-Sen, Zhang, Hong, Wang, Hai-Yan

المساهمون: Zhang, H (reprint author), Peking Univ First Hosp, Peking Univ Inst Nephrol, Dept Internal Med, Renal Div,Key Lab Renal Dis,Minist Hlth China, Beijing 100034, Peoples R China., Peking Univ First Hosp, Peking Univ Inst Nephrol, Dept Internal Med, Renal Div,Key Lab Renal Dis,Minist Hlth China, Beijing 100034, Peoples R China.

المصدر: SCI ; PubMed

مصطلحات موضوعية: immunoglobulin A nephropathy, minimal change disease, NPHS2, proteinuria, FOCAL SEGMENTAL GLOMERULOSCLEROSIS, GLOMERULAR SLIT DIAPHRAGM, IGA NEPHROPATHY, MUTATION NOMENCLATURE, NEPHROTIC SYNDROME, LINKAGE PHASE, PODOCIN, PROGRESSION, POPULATION, NEPHRIN

Relation: NEPHROLOGY.2009,14,(8),728-734.; 671115; http://hdl.handle.net/20.500.11897/197478; WOS:000272306800005

الاتاحة: https://hdl.handle.net/20.500.11897/197478
https://doi.org/10.1111/j.1440-1797.2009.01109.x

المؤلفون: DI LEO E, MAGNOLO L, LANCELLOTTI S, VISINTIN L, BERTOLINI S, CALANDRA S, TARUGI P., CROCE', Saveria, Lory, TIRIBELLI, CLAUDIO

المساهمون: DI LEO, E, Magnolo, L, Lancellotti, S, Croce', Saveria, Visintin, L, Tiribelli, Claudio, Bertolini, S, Calandra, S, Tarugi, P.

مصطلحات موضوعية: B-27.6, PLASMA, METABOLISM, LIPOPROTEINS, NONSENSE, FATTY LIVER, SITE MUTATION, TRUNCATED FORM, MUTATION NOMENCLATURE, APO-B

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/2598025; info:eu-repo/semantics/altIdentifier/wos/WOS:000244921800010; volume:44; firstpage:219; lastpage:224; numberofpages:6; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11368/1691990; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-34147160262

الاتاحة: http://hdl.handle.net/11368/1691990
https://doi.org/10.1136/jmg.2006.046359

المؤلفون: Li, Gui-Sen, Zhu, Li, Zhang, Hong, Lv, Ji-Cheng, Ding, Jia-Xiang, Zhao, Ming-Hui, Shen, Yan, Wang, Hai-Yan

المساهمون: Zhang, H (reprint author), Peking Univ, Inst Nephrol, Peking Univ Hosp 1, Div Renal,Dept Internal Med, Beijing 100034, Peoples R China., Peking Univ, Inst Nephrol, Peking Univ Hosp 1, Div Renal,Dept Internal Med, Beijing 100034, Peoples R China., Minist Hlth, Key Lab Renal Dis, Beijing, Peoples R China., Chinese Natl Human Genome Ctr, Beijing, Peoples R China.

المصدر: PubMed ; SCI

مصطلحات موضوعية: ST6GALNAC2, haplotype, sialic acid, IgA nephropathy, promoter, MUTATION NOMENCLATURE, HTSNPS SELECTION, LINKAGE PHASE, ASSOCIATION, GLYCOSYLATION, CANCER, TESTS, CELLS, GLOMERULONEPHRITIS, POLYMORPHISMS

Relation: HUMAN MUTATION.2007,28,(10),950-957.; 673789; http://hdl.handle.net/20.500.11897/198384; WOS:000250036600006

الاتاحة: https://hdl.handle.net/20.500.11897/198384
https://doi.org/10.1002/humu.20543