-
1دورية أكاديمية
المؤلفون: Vergult, S, Krgovic, D, Loeys, B, Lyonnet, S, Lieden, A, Anderlid, BM, Sharkey, F, Joss, S, Mortier, G, Menten, B
المصدر: European journal of human genetics : EJHG. 19(10):1032-1037
مصطلحات موضوعية: Medicin och hälsovetenskap
-
2دورية أكاديمية
المؤلفون: Van de Sompele, S., Small, K.W., Cicekdal, M.B., Soriano, V.L., D'haene, E., Shaya, F.S., Agemy, S., Van der Snickt, T., Rey, A.D., Rosseel, T., Van Heetvelde, M., Vergult, S., Balikova, I., Bergen, A.A., Boon, CJF, De Zaeytijd, J., Inglehearn, C.F., Kousal, B., Leroy, B.P., Rivolta, C., Vaclavik, V., van den Ende, J., van Schooneveld, M.J., Gómez-Skarmeta, J.L., Tena, J.J., Martinez-Morales, J.R., Liskova, P., Vleminckx, K., De Baere, E.
المصدر: American journal of human genetics, vol. 109, no. 11, pp. 2029-2048
مصطلحات موضوعية: Adult, Animals, Humans, Pedigree, Tomography, Optical Coherence, Corneal Dystrophies, Hereditary, Retina/metabolism, Xenopus laevis/genetics, IRX1, North Carolina macular dystrophy, NCMD, PRDM13, UMI-4C, cis-regulatory elements, CREs, enhanceropathy, human retina, multi-omics, non-coding single-nucleotide variants, SNVs, whole-genome sequencing
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36243009; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0187457C35DF4; https://serval.unil.ch/notice/serval:BIB_0187457C35DFTest; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_0187457C35DF.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0187457C35DF4Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2022.09.013Test
https://serval.unil.ch/notice/serval:BIB_0187457C35DFTest
https://serval.unil.ch/resource/serval:BIB_0187457C35DF.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0187457C35DF4Test -
3دورية أكاديمية
المؤلفون: Van de Sompele, S, Small, KW, Cicekdal, MB, Soriano, VL, D'haene, E, Shaya, FS, Agemy, S, Van der Snickt, T, Rey, AD, Rosseel, T, Van Heetvelde, M, Vergult, S, Balikova, I, Bergen, AA, Boon, CJF, De Zaeytijd, J, Inglehearn, CF, Kousal, B, Leroy, BP, Rivolta, C, Vaclavik, V, van den Ende, J, van Schooneveld, MJ, Gómez-Skarmeta, JL, Tena, JJ, Martinez-Morales, JR, Liskova, P, Vleminckx, K, De Baere, E
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/192823/1/PIIS0002929722004463.pdfTest; Van de Sompele, S, Small, KW, Cicekdal, MB et al. (26 more authors) (2022) Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy. American Journal of Human Genetics, 109 (11). pp. 2029-2048. ISSN 0002-9297
-
4
المؤلفون: Redin, Claire, Brand, Harrison, Collins, Ryan, Hanscom, Carrie, Vamsee, Pillalamarri, Kammin, Tammy, Mitchell, E., Hodge, J.C., Schilit, S., Curall, B.B., Pereira, S., Seabra, C., Stone, M., Lawless, W., Lucente, D., Antolik, C., Hochstenbach, R., Renkens, I., Brilstra, E., Vergult, S., Menten, B., Janssens, S., Callewaert, B., D’heedene, A., D’hooghe, M, Roelens, F., van de Kamp, J., Nieuwint, A., Poddighe, P.J, van Ravenswaaij-Arts, C., Rump, P., van Essen, T., Freixo, J., David, Dezső, Liao, E.C., Leew, N. de, Brunner, H.G., Kloosterman, W., Thorland, E.C., Morton, C.C., Gusella, J.F., Talkowski, M E.
المساهمون: Repositório Científico do Instituto Nacional de Saúde
مصطلحات موضوعية: Doenças Genéticas, Doenças Genómicas, Balanced Chromosomal Abnormalities, Cytogenetic Abnormalities, Congenital Anomalies
وصف الملف: application/pdf
-
5مؤتمر
المؤلفون: Redin, Claire, Brand, Harrison, Collins, Ryan, Hanscom, Carrie, Vamsee, Pillalamarri, Kammin, Tammy, Mitchell, E., Hodge, J.C., Schilit, S., Curall, B.B., Pereira, S., Seabra, C., Stone, M., Lawless, W., Lucente, D., Antolik, C., Hochstenbach, R., Renkens, I., Brilstra, E., Vergult, S., Menten, B., Janssens, S., Callewaert, B., D’heedene, A., D’hooghe, M, Roelens, F., van de Kamp, J., Nieuwint, A., Poddighe, P.J, van Ravenswaaij-Arts, C., Rump, P., van Essen, T., Freixo, J., David, Dezső, Liao, E.C., Leew, N. de, Brunner, H.G., Kloosterman, W., Thorland, E.C., Morton, C.C., Gusella, J.F., Talkowski, M E.
-
6دورية أكاديمية
المؤلفون: Basilicata, M., Bruel, A., Semplicio, G., Keller Valsecchi, C., Aktaş, T., Duffourd, Y., Rumpf, T., Morton, J., Bache, I., Szymanski, W., Gilissen, C., Vanakker, O., Õunap, K., Mittler, G., van der Burgt, I., El Chehadeh, S., Cho, M., Pfundt, R., Tan, T., Kirchhoff, M., Menten, B., Vergult, S., Lindstrom, K., Reis, A., Johnson, D., Fryer, A., McKay, V., Study, D., Fisher, R., Thauvin-Robinet, C., Francis, D., Roscioli, T., Pajusalu, S., Radtke, K., Ganesh, J., Brunner, H., Wilson, M., Faivre, L., Kalscheuer, V., Thevenon, J., Akhtar, A.
المصدر: Nature Genetics
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-0002-4F34-CTest; http://hdl.handle.net/21.11116/0000-0002-4F36-ATest
-
7دورية أكاديمية
المؤلفون: Redin, C. (Claire), Brand, H. (Harrison), Collins, R.L. (Ryan L.), Kammin, T. (Tammy), Mitchell, E. (Elyse), Hodge, J.C. (Jennelle C.), Hanscom, C. (Carrie), Pillalamarri, V. (Vamsee), Seabra, C.M. (Catarina M.), Abbott, M.-A. (Mary-Alice), Abdul-Rahman, O.A. (Omar), Aberg, E. (Erika), Adley, R. (Rhett), Alcaraz-Estrada, S.L. (Sofia L.), Alkuraya, F.S. (Fowzan S), An, Y. (Yu), Anderson, M.-A. (Mary-Anne), Antolik, C. (Caroline), Anyane-Yeboa, K. (Kwame), Atkin, J.F. (Joan), Bartell, T. (Tina), Bernstein, J.A. (Jonathan A.), Beyer, E. (Elizabeth), Blumenthal, I. (Ian), Bongers, E. (Ernie), Brilstra, E.H. (Eva H.), Brown, C.W. (Chester W.), Brüggenwirth, H.T. (Hennie), Callewaert, L., Chiang, C. (Colby), Corning, K. (Ken), Cox, H. (H.), Cuppen, E. (Edwin), Currall, B.B. (Benjamin B.), Cushing, T. (Tom), David, D. (Dezso), Deardorff, M.A. (Matthew), Dheedene, A. (Annelies), D'Hooghe, M. (Marc), Vries, B. (Boukje) de, Earl, D.L. (Dawn L.), Ferguson, H.L. (Heather L.), Fisher, H. (Heather), Fitzpatrick, D.R. (David R.), Gerrol, P. (Pamela), Giachino, D. (Daniela), Glessner, J.T. (Joseph T.), Gliem, T. (Troy), Grady, M. (Margo), Graham, B.H. (Brett H.), Griffis, C. (Cristin), Gripp, K.W. (Karen), Gropman, A.L. (Andrea L.), Hanson-Kahn, A. (Andrea), Harris, D.J. (David J.), Hayden, M.A. (Mark A.), Hill, R. (Rosamund), Hochstenbach, R. (Ron), Hoffman, J.D. (Jodi D.), Hopkin, R., Hubshman, M.W. (Monika W.), Innes, M., Irons, M. (Mira), Irving, M. (Melita), Jacobsen, J.C. (Jessie C.), Janssens, S. (Sandra), Jewett, T. (Tamison), Johnson, J.P. (John P.), Jongmans, M.C.J. (Marjolijn), Kahler, S.G. (Stephen G.), Koolen, D.A. (David), Korzelius, J. (Jerome), Kroisel, P. (Peter), Lacassie, Y. (Yves), Lawless, W. (William), Lemyre, E. (Emmanuelle), Leppig, K. (Kathy), Levin, A.V. (Alex V.), Li, H. (Haibo), Li, H. (Hong), Liao, E.C. (Eric C.), Lim, C. (Cynthia), Lose, E.J. (Edward J.), Lucente, D. (Diane), MacEra, M.J. (Michael J.), Manavalan, P. (Poornima), Mandrile, G. (Giorgia), Marcelis, C.L.M. (Carlo), Margolin, L. (Lauren), Mason, T. (Tamara), Masser-Frye, D. (Diane), McClellan, M.W. (Michael W.), Zepeda Mendoza, C.J. (Cinthya J.), Menten, B., Middelkamp, S. (Sjors), Mikami, L.R. (Liya R.), Moe, E. (Emily), Mohammed, S. (Shabaz), Mononen, T. (Tarja), Mortenson, M.E. (Megan E.), Moya, G. (Graciela), Nieuwint, A.W. (Aggie W.), Ordulu, Z. (Zehra), Parkash, S. (Sandhya), Pauker, S.P. (Susan P.), Pereira, S. (Shahrin), Perrin, D. (Danielle), Phelan, K. (Katy), Piña Aguilar, R.E. (Raul E.), Poddighe, P. (Pino), Pregno, G. (Giulia), Raskin, S. (Salmo), Reis, L. (Linda), Rhead, W. (William), Rita, D. (Debra), Renkens, I. (Ivo), Roelens, F. (Filip), Ruliera, J. (Jayla), Rump, P. (Patrick), Schilit, S.L.P. (Samantha L.P.), Shaheen, R. (Ranad), Sparkes, R. (Rebecca), Spiegel, E. (Erica), Stevens, B. (Blair), Stone, M.R. (Matthew R.), Tagoe, J. (Julia), Thakuria, J.V. (Joseph V.), Bon, B. (Bregje) van, van de Kamp, J.M. (Jiddeke M.), Van Der Burgt, I. (Ineke), Essen, T. (Ton) van, Ravenswaaij-Arts, C.M.A. (Conny) van, Van Roosmalen, M.J. (Markus J.), Vergult, S. (Sarah), Volker-Touw, C.M.L. (Catharina M.L.), Warburton, D. (Dorothy), Waterman, M.J. (Matthew J.), Wiley, S. (Susan), Wilson, A. (Anna), Yerena-De Vega, M.D.L.C.A. (Maria De La Concepcion A), Zori, R.T. (Roberto T.), Levy, B. (Brynn), Brunner, H.G. (Han), Leeuw, N. (Nicole) de, Kloosterman, W.P. (Wigard), Thorland, E.C. (Erik C.), Morton, C.C. (Cynthia), Gusella, J.F. (James), Talkowski, M.E. (Michael E.)
المصدر: Nature Genetics vol. 49 no. 1, pp. 36-45
العلاقة: http://repub.eur.nl/pub/108340Test; urn:hdl:1765/108340
-
8دورية أكاديمية
المؤلفون: Vergult, S, Krgovic, D, Loeys, B, Lyonnet, S, Lieden, A, Anderlid, BM, Sharkey, F, Joss, S, Mortier, G, Menten, B
المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS. 20(4):367-367
مصطلحات موضوعية: Medicin och hälsovetenskap
-
9دورية أكاديمية
المؤلفون: Coppieters, F., Ascari, G., Dannhausen, K., Nikopoulos, K., Peelman, F., Karlstetter, M., Xu, M., Brachet, C., Meunier, I., Tsilimbaris, M.K., Tsika, C., Blazaki, S.V., Vergult, S., Farinelli, P., Van Laethem, T., Bauwens, M., De Bruyne, M., Chen, R., Langmann, T., Sui, R., Meire, F., Rivolta, C., Hamel, C.P., Leroy, B.P., De Baere, E.
المصدر: American journal of human genetics, vol. 99, no. 2, pp. 470-480
مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Alleles, Child, Consanguinity, Cullin Proteins/metabolism, Exome/genetics, Female, Founder Effect, Genes, Recessive, Guanine Nucleotide Exchange Factors/genetics, Haplotypes/genetics, Homozygote, Humans, Lymphocytes/metabolism, Male, Mutation, Missense/genetics, NF-E2-Related Factor 2/metabolism, Pedigree, Phenotype, RNA, Messenger/genetics, Retina/metabolism, Retinal Dystrophies/genetics, Syndrome, Turkey, Ubiquitination/genetics
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27486781; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D94870497C067; https://serval.unil.ch/notice/serval:BIB_D94870497C06Test; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_D94870497C06.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D94870497C067Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2016.06.017Test
https://serval.unil.ch/notice/serval:BIB_D94870497C06Test
https://serval.unil.ch/resource/serval:BIB_D94870497C06.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D94870497C067Test -
10دورية أكاديمية
المؤلفون: Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L.M., Rosenfeld, J.A., Talkowski, M.E., Simonic, I., Lionel, A.C., Vergult, S., Pyatt, R.E., van de Kamp, J.M., Nieuwint, A.W.M., Weiss, M.M., Rizzu, P., Verwer, L.E.N.I., van Spaendonk, R.M.L., Shen, Y.P., Wu, B.L., Yu, T.T., Yu, Y.G., Chiang, C., Gusella, J.F., Lindgren, A.M., Morton, C.C., van Binsbergen, E., Bulk, S., van Rossem, E., Vanakker, O., Armstrong, R., Park, S.M., Greenhalgh, L., Maye, U., Neill, N.J., Abbott, K.M., Sell, S., Ladda, R., Farber, D.M., Bader, P.I., Cushing, T., Drautz, J.M., Konczal, L., Nash, P., de Los Reyes, E., Carter, M.T., Hopkins, E., Marshall, C.R., Osborne, L.R., Gripp, K.W., Thrush, D.L., Hashimoto, S, Gastier-Foster, J.M., Astbury, C., Ylstra, B., Meijers-Heijboer, E.J., Posthuma, D., Menten, B, Mortier, G., Scherer, S.W., Eichler, E.E., Girirajan, S., Katsanis, N., Groffen, A.J.A., Sistermans, E.A.
المصدر: Beunders , G , Voorhoeve , E , Golzio , C , Pardo , L M , Rosenfeld , J A , Talkowski , M E , Simonic , I , Lionel , A C , Vergult , S , Pyatt , R E , van de Kamp , J M , Nieuwint , A W M , Weiss , M M , Rizzu , P , Verwer , L E N I , van Spaendonk , R M L , Shen , Y P , Wu , B L , Yu , T T , Yu , Y ....
الإتاحة: https://doi.org/10.1016/j.ajhg.2012.12.011Test
https://research.vu.nl/en/publications/3493c27c-20cf-490c-93b0-95d806279c39Test
https://hdl.handle.net/1871.1/3493c27c-20cf-490c-93b0-95d806279c39Test
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567268Test/
النص الكامل