المؤلفون: Berrevoets, Remon C., Middelburg, Thomas, Vermeulen, Raymond F. L., Della Chiesa, Luca, Broggi, Federico, Piciaccia, Stefano, Pluis, Rene, Umesh, Prathwiraj, Marques, Jorge F., Tittel, Wolfgang, Slater, Joshua A.

المصدر: Commun Phys 5, 186 (2022)

مصطلحات موضوعية: Quantum Physics

URL الوصول: http://arxiv.org/abs/2112.14254

المؤلفون: Pompili, Matteo, Hermans, Sophie L. N., Baier, Simon, Beukers, Hans K. C., Humphreys, Peter C., Schouten, Raymond N., Vermeulen, Raymond F. L., Tiggelman, Marijn J., Martins, Laura dos Santos, Dirkse, Bas, Wehner, Stephanie, Hanson, Ronald

المصدر: Science, 372, 259-264 (2021)

مصطلحات موضوعية: Quantum Physics

URL الوصول: http://arxiv.org/abs/2102.04471

المؤلفون: Humphreys, Peter C., Kalb, Norbert, Morits, Jaco P. J., Schouten, Raymond N., Vermeulen, Raymond F. L., Twitchen, Daniel. J., Markham, Matthew, Hanson, Ronald

المصدر: Nature 558, pages 268-273 (2018)

مصطلحات موضوعية: Quantum Physics

URL الوصول: http://arxiv.org/abs/1712.07567

المؤلفون: French, C. E., Dolling, H., Mégy, K., Sanchis-Juan, A., Kumar, A., Delon, I., Wakeling, M., Mallin, L., Agrawal, S., Austin, T., Walston, F., Park, S. M., Parker, A., Piyasena, C., Bradbury, K., Ellard, S., Rowitch, D. H., Raymond, F. L.

مصطلحات موضوعية: genomics, mendelian disorders, paediatrics, rapid diagnostic whole genome, rare disease

Relation: https://linkinghub.elsevier.com/retrieve/pii/S2666-2477(22)00029-X; HGG Adv. 2022 Apr 25;3(3):100113. doi:10.1016/j.xhgg.2022.100113. eCollection 2022 Jul 14.; https://rde.dspace-express.com/handle/11287/622575; HGG advances; PMC9108978

الاتاحة: https://doi.org/10.1016/j.xhgg.2022.100113
https://rde.dspace-express.com/handle/11287/622575

المؤلفون: Patterson V., Ullah F., Bryant L., Griffin J. N., Sidhu A., Saliganan S., Blaile M., Saenz M. S., Smith R., Ellingwood S., Grange D. K., Hu X., Mireguli M., Luo Y., Shen Y., Mulhern M., Zackai E., Ritter A., Izumi K., Hoefele J., Wagner M., Riedhammer K. M., Seitz B., Robin N. H., Goodloe D., Mignot C., Keren B., Cox H., Jarvis J., Hempel M., Gibson C. F., Mau-Them F. T., Vitobello A., Bruel A. -L., Sorlin A., Mehta S., Raymond F. L., Gilmore K., Powell B. C., Weck K., Li C., Vulto-Van Silfhout A. T., Giacomini T., Mancardi M. M., Accogli A., Salpietro V., Zara F., Vora N. L., Davis E. E., Burdine R., Bhoj E.

المساهمون: Patterson, V., Ullah, F., Bryant, L., Griffin, J. N., Sidhu, A., Saliganan, S., Blaile, M., Saenz, M. S., Smith, R., Ellingwood, S., Grange, D. K., Hu, X., Mireguli, M., Luo, Y., Shen, Y., Mulhern, M., Zackai, E., Ritter, A., Izumi, K., Hoefele, J., Wagner, M., Riedhammer, K. M., Seitz, B., Robin, N. H., Goodloe, D., Mignot, C., Keren, B., Cox, H., Jarvis, J., Hempel, M., Gibson, C. F., Mau-Them, F. T., Vitobello, A., Bruel, A. -L., Sorlin, A., Mehta, S., Raymond, F. L., Gilmore, K., Powell, B. C., Weck, K., Li, C., Vulto-Van Silfhout, A. T., Giacomini, T., Mancardi, M. M., Accogli, A., Salpietro, V., Zara, F., Vora, N. L., Davis, E. E., Burdine, R., Bhoj, E.

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000989268500002; volume:9; firstpage:N/A; lastpage:N/A; journal:SCIENCE ADVANCES; https://hdl.handle.net/11567/1158037; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85158069250

الاتاحة: https://hdl.handle.net/11567/1158037
https://doi.org/10.1126/sciadv.ade0631

المؤلفون: Sanchis-Juan, A., Megy, K., Stephens, J., Armirola Ricaurte, C., Dewhurst, E., Low, K., French, C. E., Grozeva, D., Stirrups, K., Erwood, M., McTague, A., Penkett, C. J., Shamardina, O., Tuna, S., Daugherty, L. C., Gleadall, N., Duarte, S. T., Hedrera-Fernández, A., Vogt, J., Ambegaonkar, G., Chitre, M., Josifova, D., Kurian, M. A., Parker, A., Rankin, J., Reid, E., Wakeling, E., Wassmer, E., Woods, C. G., Raymond, F. L., Carss, K. J.

مصطلحات موضوعية: Humans, Genome, Human/genetics, Chromosome Mapping, Base Sequence, INDEL Mutation, Neurodevelopmental Disorders/genetics, long-read sequencing, neurodevelopmental disorders, structural variants, whole-genome sequencing

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(23)00247-1; Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, et al. Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders. Am J Hum Genet. 2023;110(8):1343-55.; American journal of human genetics; PMC10432178; https://hdl.handle.net/11287/622888

الاتاحة: https://hdl.handle.net/11287/622888
https://doi.org/10.1016/j.ajhg.2023.07.007

المؤلفون: Villate Bejarano, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela-Palomo, Alberto, Velasco, Eladio, Grozeva, Detelina, Raymond, F. L., Botella, María P., Tejada, María Isabel

المساهمون: Fundación Jesús de Gangoiti Barrera, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Junta de Castilla y León, European Commission, Wellcome Trust

مصطلحات موضوعية: CHD7, CHARGE syndrome, Next generation sequencing, Alternative splicing

Relation: Publisher's version; https://doi.org/10.3389/fgene.2018.00007; Sí; Frontiers in Genetics 9: 7 (2018); http://hdl.handle.net/10261/196651; http://dx.doi.org/10.13039/501100003329; http://dx.doi.org/10.13039/501100004587; http://dx.doi.org/10.13039/501100000780; http://dx.doi.org/10.13039/100004440; http://dx.doi.org/10.13039/501100014180

الاتاحة: http://hdl.handle.net/10261/196651
https://doi.org/10.3389/fgene.2018.00007
https://doi.org/10.13039/501100003329
https://doi.org/10.13039/501100004587
https://doi.org/10.13039/501100000780
https://doi.org/10.13039/100004440
https://doi.org/10.13039/501100014180

المؤلفون: Mencacci N. E., Kamsteeg E. -J., Nakashima K., R'Bibo L., Lynch D. S., Balint B., Willemsen M. A. A. P., Adams M. E., Wiethoff S., Suzuki K., Davies C. H., NG, JULIA CHI YAN, Meyer E., Veneziano L., Giunti P., Hughes D., Raymond F. L., Carecchio M., Zorzi G., Nardocci N., Barzaghi C., Garavaglia B., Salpietro V., Hardy J., Pittman A. M., Houlden H., Kurian M. A., Kimura H., Vissers L. E. L. M., Wood N. W., Bhatia K. P.

المساهمون: Mencacci, N. E., Kamsteeg, E. -J., Nakashima, K., R'Bibo, L., Lynch, D. S., Balint, B., Willemsen, M. A. A. P., Adams, M. E., Wiethoff, S., Suzuki, K., Davies, C. H., Ng, JULIA CHI YAN, Meyer, E., Veneziano, L., Giunti, P., Hughes, D., Raymond, F. L., Carecchio, M., Zorzi, G., Nardocci, N., Barzaghi, C., Garavaglia, B., Salpietro, V., Hardy, J., Pittman, A. M., Houlden, H., Kurian, M. A., Kimura, H., Vissers, L. E. L. M., Wood, N. W., Bhatia, K. P.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000374203800014; volume:98; issue:4; firstpage:763; lastpage:771; numberofpages:9; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3313774; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84964892380; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#description

الاتاحة: http://hdl.handle.net/11577/3313774
https://doi.org/10.1016/j.ajhg.2016.02.015
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#description

المؤلفون: Riazuddin, S., Hussain, M., Razzaq, A., Iqbal, Z., Shahzad, M., Polla, D. L., Song, Y., van Beusekom, E., Khan, A. A., Tomas-Roca, L., Rashid, M., Zahoor, M. Y., Wissink-Lindhout, W. M., Basra, M. A. R., Ansar, M., Agha, Z., van Heeswijk, K., Rasheed, F., Van de Vorst, M., Veltman, J. A., Gilissen, C., Akram, J., Kleefstra, T., Assir, M. Z., Grozeva, D., Carss, K., Raymond, F. L., O'Connor, T. D., Riazuddin, S. A., Khan, S. N., Ahmed, Z. M., de Brouwer, A. P. M., van Bokhoven, H.

المصدر: Riazuddin , S , Hussain , M , Razzaq , A , Iqbal , Z , Shahzad , M , Polla , D L , Song , Y , van Beusekom , E , Khan , A A , Tomas-Roca , L , Rashid , M , Zahoor , M Y , Wissink-Lindhout , W M , Basra , M A R , Ansar , M , Agha , Z , van Heeswijk , K , Rasheed , F , Van de Vorst , M , Veltman , J A , Gilissen , C , Akram , J , ....

مصطلحات موضوعية: NONSYNDROMIC MENTAL-RETARDATION, DE-NOVO MUTATIONS, COGNITIVE DISORDERS, METABOLIC CRISES, NETWORKS, DEAFNESS, AUTISM, SCHIZOPHRENIA, MORTALITY, MARRIAGE

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/c414c9d9-6fbb-40eb-a516-73ad7eae9d12
https://doi.org/10.1038/mp.2016.109

المؤلفون: Ponder, M., Statham, H., Hallowell, N., Moon, J. A., Richards, M., Raymond, F. L.

المصدر: Journal of Medical Ethics, 2008 Sep 01. 34(9), 690-694.

URL الوصول: https://www.jstor.org/stable/27720177

المؤلفون: Raymond, F. L.

مصطلحات موضوعية: 572.8, Genetics

الاتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.351471

المؤلفون: Naville, M., Ishibashi, M., Ferg, M., Bengani, H., Rinkwitz, S., Krecsmarik, M., Hawkins, T. A., Wilson, S. W., Manning, E., Chilamakuri, C. S. R., Wilson, D. I., Louis, A., Raymond, F. L., Rastegar, S., Strähle, U., Lenhard, B., Bally-Cuif, L., Heyningen, V. van, FitzPatrick, D. R., Becker, T. S., Crollius, H. R.

المصدر: Nature Communications, 6, 6904 ; ISSN: 2041-1723

مصطلحات موضوعية: ddc:570, Life sciences, biology, info:eu-repo/classification/ddc/570

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/wos/000353704100012; info:eu-repo/semantics/altIdentifier/issn/2041-1723; https://publikationen.bibliothek.kit.edu/110102528; https://publikationen.bibliothek.kit.edu/110102528/4419550; https://doi.org/10.5445/IR/110102528; http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:swb:90-AAA1101025283

الاتاحة: https://publikationen.bibliothek.kit.edu/110102528
https://publikationen.bibliothek.kit.edu/110102528/4419550
https://doi.org/10.5445/IR/110102528
http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:swb:90-AAA1101025283

المؤلفون: Raymond, F. L., Etchells, J. L., Bell, T. A., Masley, P. M.

المصدر: Mycologia, 1959 Jul 01. 51(4), 492-511.

URL الوصول: https://www.jstor.org/stable/3756139

المؤلفون: de Bruijn S. E., Fiorentino A., Ottaviani D., Fanucchi S., Melo U. S., Corral-Serrano J. C., Mulders T., Georgiou M., Rivolta C., Pontikos N., Arno G., Roberts L., Greenberg J., Albert S., Gilissen C., Aben M., Rebello G., Mead S., Raymond F. L., Corominas J., Smith C. E. L., Kremer H., Downes S., Black G. C., Webster A. R., Inglehearn C. F., van den Born L. I., Koenekoop R. K., Michaelides M., Ramesar R. S., Hoyng C. B., Mundlos S., Mhlanga M. M., Cremers F. P. M., Cheetham M. E., Roosing S., Hardcastle A. J.

المساهمون: de Bruijn, S. E., Fiorentino, A., Ottaviani, D., Fanucchi, S., Melo, U. S., Corral-Serrano, J. C., Mulders, T., Georgiou, M., Rivolta, C., Pontikos, N., Arno, G., Roberts, L., Greenberg, J., Albert, S., Gilissen, C., Aben, M., Rebello, G., Mead, S., Raymond, F. L., Corominas, J., Smith, C. E. L., Kremer, H., Downes, S., Black, G. C., Webster, A. R., Inglehearn, C. F., van den Born, L. I., Koenekoop, R. K., Michaelides, M., Ramesar, R. S., Hoyng, C. B., Mundlos, S., Mhlanga, M. M., Cremers, F. P. M., Cheetham, M. E., Roosing, S., Hardcastle, A. J.

مصطلحات موضوعية: dominant retinitis pigmentosa, ectopic expression, GDPD, Hi-C, photoreceptor precursors cell, retinal organoid, RP17, stem cell, structural variant, topologically associated domain, whole-genome sequencing, Adult, Amino Acid Sequence, Cell Differentiation, Cellular Reprogramming, Child, Chromosome Mapping, Chromosomes, Human, Pair 17, Cohort Studie, Enhancer Elements, Genetic, Female, Fibroblast, Gene Expression, Genes, Dominant, Genome, Induced Pluripotent Stem Cell

Relation: info:eu-repo/semantics/altIdentifier/pmid/33022222; info:eu-repo/semantics/altIdentifier/wos/WOS:000587855200003; volume:107; issue:5; firstpage:802; lastpage:814; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3367770; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85095442763

الاتاحة: http://hdl.handle.net/11577/3367770
https://doi.org/10.1016/j.ajhg.2020.09.002

المؤلفون: Smedley, D., Smith, K. R., Martin, A., Thomas, E. A., McDonagh, E. M., Cipriani, V., Ellingford, J. M., Arno, G., Tucci, A., Vandrovcova, J., Chan, G., Williams, H. J., Ratnaike, T., Wei, W., Stirrups, K., Ibanez, K., Moutsianas, L., Wielscher, M., Need, A., Barnes, M. R., Vestito, L., Buchanan, J., Wordsworth, S., Ashford, S., Rehmström, K., Li, E., Fuller, G., Twiss, P., Spasic-Boskovic, O., Halsall, S., Floto, R. A., Poole, K., Wagner, A., Mehta, S. G., Gurnell, M., Burrows, N., James, R., Penkett, C., Dewhurst, E., Gräf, S., Mapeta, R., Kasanicki, M., Haworth, A., Savage, H., Babcock, M., Reese, M. G., Bale, M., Baple, E., Boustred, C., Brittain, H., de Burca, A., Bleda, M., Devereau, A., Halai, D., Haraldsdottir, E., Hyder, Z., Kasperaviciute, D., Patch, C., Polychronopoulos, D., Matchan, A., Sultana, R., Ryten, M., Tavares, A. L. T., Tregidgo, C., Turnbull, C., Welland, M., Wood, S., Snow, C., Williams, E., Leigh, S., Foulger, R. E., Daugherty, L. C., Niblock, O., Leong, I. U. S., Wright, C. F., Davies, J., Crichton, C., Welch, J., Woods, K., Abulhoul, L., Aurora, P., Bockenhauer, D., Broomfield, A., Cleary, M. A., Lam, T., Dattani, M., Footitt, E., Ganesan, V., Grunewald, S., Compeyrot-Lacassagne, S., Muntoni, F., Pilkington, C., Quinlivan, R., Thapar, N., Wallis, C., Wedderburn, L. R., Worth, A., Bueser, T., Compton, C., Deshpande, C., Fassihi, H., Haque, E., Izatt, L., Josifova, D., Mohammed, S., Robert, L., Rose, S., Ruddy, D., Sarkany, R., Say, G., Shaw, A. C., Wolejko, A., Habib, B., Burns, G., Hunter, S., Grocock, R. J., Humphray, S. J., Robinson, P. N., Haendel, M., Simpson, M. A., Banka, S., Clayton-Smith, J., Douzgou, S., Hall, G., Thomas, H. B., O'Keefe, R. T., Michaelides, M., Moore, A. T., Malka, S., Pontikos, N., Browning, A. C., Straub, V., Gorman, G. S., Horvath, R., Quinton, R., Schaefer, A. M., Yu-Wai-Man, P., Turnbull, D. M., McFarland, R., Taylor, R. W., O'Connor, E., Yip, J., Newland, K., Morris, H. R., Polke, J., Wood, N. W., Campbell, C., Camps, C., Gibson, K., Koelling, N., Lester, T., Németh, A. H., Palles, C., Patel, S., Roy, N. B. A., Sen, A., Taylor, J., Cacheiro, P., Jacobsen, J. O., Seaby, E. G., Davison, V., Chitty, L., Douglas, A., Naresh, K., McMullan, D., Ellard, S., Temple, I. K., Mumford, A. D., Wilson, G., Beales, P., Bitner-Glindzicz, M., Black, G., Bradley, J. R., Brennan, P., Burn, J., Chinnery, P. F., Elliott, P., Flinter, F., Houlden, H., Irving, M., Newman, W., Rahman, S., Sayer, J. A., Taylor, J. C., Webster, A. R., Wilkie, A. O. M., Ouwehand, W. H., Raymond, F. L., Chisholm, J., Hill, S., Bentley, D., Scott, R. H., Fowler, T., Rendon, A., Caulfield, M.

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases/diagnosis/*genetics, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult

Relation: N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi:10.1056/NEJMoa2035790.; https://rde.dspace-express.com/handle/11287/622253; The New England journal of medicine

الاتاحة: https://doi.org/10.1056/NEJMoa2035790
https://rde.dspace-express.com/handle/11287/622253

المؤلفون: Helbig, K. L., Lauerer, R. J., Bahr, J. C., Souza, I. A., Myers, C. T., Uysal, B., Schwarz, N., Gandini, M. A., Huang, S., Keren, B., Mignot, C., Afenjar, A., de Villemeur, T. B., Heron, D., Nava, C., Valence, S., Buratti, J., Fagerberg, C. R., Soerensen, K. P., Kibaek, M., Kamsteeg, E. J., Koolen, D. A., Gunning, B., Schelhaas, H. J., Kruer, M. C., Fox, J., Bakhtiari, S., Jarrar, R., Padilla-Lopez, S., Lindstrom, K., Jin, S. C., Zeng, X., Bilguvar, K., Papavasileiou, A., Xin, Q. H., Zhu, Changlian, 1964, Boysen, K., Vairo, F., Lanpher, B. C., Klee, E. W., Tillema, J. M., Payne, E. T., Cousin, M. A., Kruisselbrink, T. M., Wick, M. J., Baker, J., Haan, E., Smith, N., Corbett, M. A., MacLennan, A. H., Gecz, J., Biskup, S., Goldmann, E., Rodan, L. H., Kichula, E., Segal, E., Jackson, K. E., Asamoah, A., Dimmock, D., McCarrier, J., Botto, L. D., Filloux, F., Tvrdik, T., Cascino, G. D., Klingerman, S., Neumann, C., Wang, R., Jacobsen, J. C., Nolan, M. A., Snell, R. G., Lehnert, K., Sadleir, L. G., Anderlid, B. M., Kvarnung, M., Guerrini, R., Friez, M. J., Lyons, M. J., Leonhard, J., Kringlen, G., Casas, K., El Achkar, C. M., Smith, L. A., Rotenberg, A., Poduri, A., Sanchis-Juan, A., Carss, K. J., Rankin, J., Zeman, A., Raymond, F. L., Blyth, M., Kerr, B., Ruiz, K., Urquhart, J., Hughes, I., Banka, S., Hedrich, U. B. S., Scheffer, I. E., Helbig, I., Zamponi, G. W., Lerche, H., Mefford, H. C., Deciphering Dev Disorders, Study

المصدر: American Journal of Human Genetics. 103(5):666-678

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, calcium-channel dysfunction, r-type, molecular pathology, ilae, commission, position paper, ca2+ channels, mice lacking, disorders, mutations, classification, Genetics & Heredity

URL الوصول: https://gup.ub.gu.se/publication/273681

المؤلفون: Raymond, F. L., Whibley, A., Stratton, M. R., Gecz, J.

المصدر: Human Molecular Genetics ; volume 18, issue R1, page R60-R64 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddp071

المؤلفون: Berrevoets, Remon C., Middelburg, Thomas, Vermeulen, Raymond F. L., Chiesa, Luca Della, Broggi, Federico, Piciaccia, Stefano, Pluis, Rene, Umesh, Prathwiraj, Marques, Jorge F., Tittel, Wolfgang, Slater, Joshua A.

المصدر: Communications Physics; 7/16/2022, Vol. 5 Issue 1, p1-8, 8p

مصطلحات موضوعية: COMPUTER networking equipment, UNITS of measurement, COMMUNICATION infrastructure, INTERNET protocols, INTERNET, TELECOMMUNICATION systems

مصطلحات جغرافية: NETHERLANDS

المؤلفون: Quarrell, Oliver W J, Rigby, Alan S, Barron, L, Crow, Y, Dalton, A, Dennis, N, Fryer, A E, Heydon, F, Kinning, E, Lashwood, A, Losekoot, M, Margerison, L, McDonnell, S, Morrison, P J, Norman, A, Peterson, M, Raymond, F L, Simpson, S, Thompson, E, Warner, J

مصطلحات موضوعية: Electronic letters

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/44/3/e68; http://dx.doi.org/10.1136/jmg.2006.045120

الاتاحة: http://jmg.bmj.com/cgi/content/short/44/3/e68
https://doi.org/10.1136/jmg.2006.045120

المؤلفون: Raymond, F L

المصدر: Journal of Medical Genetics ; volume 43, issue 3, page 193-200 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.2005.033043
https://syndication.highwire.org/content/doi/10.1136/jmg.2005.033043