المؤلفون: Quarrell, OW, Handley, O, O'Donovan, K, Dumoulin, C, Ramos-Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, GB

المصدر: European journal of human genetics : EJHG. 20(1):20-26

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:123755429Test

المؤلفون: Matthews, HS, Palmer, RL, Baynam, GS, Quarrell, OW, Klein, OD, Spritz, RA, Hennekam, RC, Walsh, S, Shriver, M, Weinberg, SM, Hallgrimsson, B, Hammond, P, Penington, AJ, Peeters, H, Claes, PD

العلاقة: pii: 10.1038/s41598-021-91465-z; Matthews, H. S., Palmer, R. L., Baynam, G. S., Quarrell, O. W., Klein, O. D., Spritz, R. A., Hennekam, R. C., Walsh, S., Shriver, M., Weinberg, S. M., Hallgrimsson, B., Hammond, P., Penington, A. J., Peeters, H. & Claes, P. D. (2021). Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism. SCIENTIFIC REPORTS, 11 (1), https://doi.org/10.1038/s41598-021-91465-zTest.; http://hdl.handle.net/11343/278462Test

الإتاحة: https://doi.org/10.1038/s41598-021-91465-zTest
http://hdl.handle.net/11343/278462Test

المؤلفون: Rautengarten, C, Quarrell, OW, Stals, K, Caswell, RC, De Franco, E, Baple, E, Burgess, N, Jokhi, R, Heazlewood, JL, Offiah, AC, Ebert, B, Ellard, S

العلاقة: pii: 5551101; Rautengarten, C., Quarrell, O. W., Stals, K., Caswell, R. C., De Franco, E., Baple, E., Burgess, N., Jokhi, R., Heazlewood, J. L., Offiah, A. C., Ebert, B. & Ellard, S. (2019). A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. HUMAN MOLECULAR GENETICS, 28 (21), pp.3543-3551. https://doi.org/10.1093/hmg/ddz200Test.; http://hdl.handle.net/11343/250197Test

الإتاحة: https://doi.org/10.1093/hmg/ddz200Test
http://hdl.handle.net/11343/250197Test

المؤلفون: Lord, J, McMullan, DJ, Eberhardt, RY, Rinck, G, Hamilton, SJ, Quinlan-Jones, E, Prigmore, E, Keelagher, R, Best, SK, Carey, GK, Mellis, R, Robart, S, Berry, IR, Chandler, KE, Cilliers, D, Cresswell, L, Edwards, SL, Gardiner, C, Henderson, A, Holden, ST, Homfray, T, Lester, T, Lewis, RA, Newbury-Ecob, R, Prescott, K, Quarrell, OW, Ramsden, SC, Roberts, E, Tapon, D, Tooley, MJ, Vasudevan, PC, Weber, AP, Wellesley, DG, Westwood, P, White, H, Parker, M, Williams, D, Jenkins, L, Scott, RH, Kilby, MD, Chitty, LS, Hurles, ME, Maher, ER

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/157005/1/1-s2.0-S0140673618319408-main.pdfTest; Lord, J, McMullan, DJ, Eberhardt, RY et al. (40 more authors) (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. The Lancet, 393 (10173). pp. 747-757. ISSN 0140-6736

الإتاحة: https://eprints.whiterose.ac.uk/157005Test/
https://eprints.whiterose.ac.uk/157005/1/1-s2.0-S0140673618319408-main.pdfTest

المؤلفون: Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER, Bateman M, Campbell C, Campbell J, Carey G, Cohen K, Collingwood E, Constantinou P, Delmege C, Ellis R, Evans J, Everett T, Pinto CF, Forrester N, Fowler E, Hamilton S, Healey K, Hudson R, Lewis R, Marton T, Mehta S, Park S-M, Rowland J, Steer J, Taylor EJ, Wilson E

المصدر: The Lancet, 23 February - 1 March 2019

وصف الملف: application/pdf

الإتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=255527/CA73740A-7117-4AC6-A132-440C9B40C564.pdf&pub_id=255527Test

المؤلفون: Piña-Aguilar, RE, Simpson, SA, Alshatti, A, Clarke, A, Craufurd, D, Dorkins, H, Doye, K, Lahiri, N, Lashwood, A, Lynch, C, Miller, C, Morton, S, O'Driscoll, M, Quarrell, OW, Rae, D, Strong, M, Tomlinson, C, Turnpenny, P, Miedzybrodzka, Z, UK HD Predictive Testing Consortium

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113220/1/27%20years%20prenatal%20diagnosis.pdfTest; Piña-Aguilar, RE; Simpson, SA; Alshatti, A; Clarke, A; Craufurd, D; Dorkins, H; Doye, K; Lahiri, N; Lashwood, A; Lynch, C; et al. Piña-Aguilar, RE; Simpson, SA; Alshatti, A; Clarke, A; Craufurd, D; Dorkins, H; Doye, K; Lahiri, N; Lashwood, A; Lynch, C; Miller, C; Morton, S; O'Driscoll, M; Quarrell, OW; Rae, D; Strong, M; Tomlinson, C; Turnpenny, P; Miedzybrodzka, Z; UK HD Predictive Testing Consortium (2019) 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. Genet Med, 21 (7). pp. 1639-1643. ISSN 1530-0366 https://doi.org/10.1038/s41436-018-0367-zTest SGUL Authors: Lahiri, Nayana

الإتاحة: https://doi.org/10.1038/s41436-018-0367-zTest
https://openaccess.sgul.ac.uk/id/eprint/113220Test/
https://openaccess.sgul.ac.uk/id/eprint/113220/1/27%20years%20prenatal%20diagnosis.pdfTest

المؤلفون: Quarrell, OW, Clarke, AJ, Compton, C, de Die-Smulders, CEM, Fryer, A, Jenkins, S, Lahiri, N, MacLeod, R, Miedzybrodzka, Z, Morrison, PJ, Musgrave, H, O'Driscoll, M, Strong, M, van Belzen, MJ, Vermeer, S, Verschuuren-Bemelmans, CC, Bijlsma, EK

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/110977/10/am%2520j%2520Med%2520genet%2520reply%2520to%2520reviewers%2520%2520comments%2520july%25202017-AC-CV%2520-OQ%2520Aug%25202017.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/110977/1/Table%20and%20figure.pdfTest; Quarrell, OW; Clarke, AJ; Compton, C; de Die-Smulders, CEM; Fryer, A; Jenkins, S; Lahiri, N; MacLeod, R; Miedzybrodzka, Z; Morrison, PJ; et al. Quarrell, OW; Clarke, AJ; Compton, C; de Die-Smulders, CEM; Fryer, A; Jenkins, S; Lahiri, N; MacLeod, R; Miedzybrodzka, Z; Morrison, PJ; Musgrave, H; O'Driscoll, M; Strong, M; van Belzen, MJ; Vermeer, S; Verschuuren-Bemelmans, CC; Bijlsma, EK (2017) Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences. Am J Med Genet B Neuropsychiatr Genet, 177 (1). pp. 35-39. ISSN 1552-485X https://doi.org/10.1002/ajmg.b.32582Test SGUL Authors: Lahiri, Nayana

الإتاحة: https://doi.org/10.1002/ajmg.b.32582Test
https://openaccess.sgul.ac.uk/id/eprint/110977Test/
https://openaccess.sgul.ac.uk/id/eprint/110977/10/am%2520j%2520Med%2520genet%2520reply%2520to%2520reviewers%2520%2520comments%2520july%25202017-AC-CV%2520-OQ%2520Aug%25202017.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/110977/1/Table%20and%20figure.pdfTest

المؤلفون: Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB, European Huntington’s Disease N.e.t.w.o.r.k. CollaboratorsBarth K, Correia Guedes L, Maria Finisterra A, Bascuñana Garde M, Bos R, Ecker D, Held C, Koppers K, Laurà M, Martínez Descals A, McLean T, Mestre T, Minster S, Monza D, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Koivisto SP, Rialland A, Røren N, Šašinková P, Cubillo PT, van Walsem MR, Witjes Ané MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Bachoud Lévi AC, Bentivoglio AR, Bonelli R, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Levey J, Nielsen JE, Päivärinta M, Roos RA, Rojo Sebastián A, Tabrizi SJ, Vandenberghe W, Verellen Dumoulin C, Zaremba J, Uhrova T, Wahlström J, Bonelli RM, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Brugger F, Hepperger C, Hotter A, Mahlknecht P, Nocker M, Seppi K, Wenning G, Buratti L, Hametner EM, Holas C, Hussl A, Mair K, Poewe W, Wolf E, Zangerl A, Braunwarth EM, Ribaï P, Flamez A, Morez V, de Raedt S, Boogaerts A, van Reijen D, Klempíř J, Kucharík M, Roth J, Hjermind LE, Jakobsen O, Stokholm J, Hasholt L, Nørremølle A, Sørensen SA, Hiivola H, Martikainen K, Tuuha K, Peippo M, Sipponen M, Kosinski CM, Milkereit E, Probst D, Sass C, Schiefer J, Schlangen C, Werner CJ, Gelderblom H, Priller J, Prüss H, Spruth EJ, Andrich J, Hoffmann R, Kraus PH, Muth S, Prehn C, Saft C, Salmen S, Stamm C, Steiner T, Strassburger K, Lange H, Friedrich A, Hunger U, Löhle M, Schmidt S, Storch A, Wolz A, Wolz M, Lambeck J, Zucker B, Boelmans K, Ganos C, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Heinicke W, Longinus B, Uni M, Bürk K, Möller JC, Rissling I, Peinemann A, Städtler M, Weindl A, Bechtel N, Beckmann H, Bohlen S, Hölzner E, Reilmann R, Rohm S, Rumpf S, Schepers S, Beister A, Dose M, Hammer K, Kieni J, Leythaeuser G, Marquard R, Raab T, Richter S, Selimbegovic Turkovic A, Schrenk C, Schuierer M, Wiedemann A, Barth K, Buck A, Connemann J, Eschenbach C, Landwehrmeyer B, Lezius F, Nepper S, Niess A, Süssmuth S, Trautmann S, Weydt P, Cormio C, Difruscolo O, Sciruicchio V, Serpino C, DE TOMMASO, Marina, Capellari S, Cortelli P, Gallassi R, Poda R, Rizzo G, Scaglione C, Bertini E, Ghelli E, Ginestroni A, Massaro F, Mechi C, Paganini M, Piacentini S, Pradella S, Romoli AM, Sorbi S, Abbruzzese G, Bandettini di Poggio M, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, De Michele G, Di Maio L, Rinaldi C, Valeria Russo C, Salvatore E, Tucci T, Cannella M, Codella V, De Gregorio F, De Nicola N, Martino T, Simonelli M, Squitieri F, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Modoni A, Piano C, Piccininni C, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, Marit de Weert A, Bolwijn JJ, Dekker M, Leenders KL, van Oostrom JC, Dumas EM, Jurgens CK, van den Bogaard SJ, 't Hart EP, Kremer B, Verstappen CC, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Retterstøl L, Overland T, Stokke B, Bjørnevoll I, Sando SB, Sitek E, Slawek J, Soltan W, Boczarska Jedynak M, Jasinska Myga B, Opala G, Kodowska Duda G, Banaszkiewicz K, Szczudlik A, Rudziñska M, Wójcik M, Dec M, Krawczyk M, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempoowicz J, Samara H, Janik P, Kalbarczyk A, Kwiecinski H, Jamrozik Z, Antczak J, Jachinska K, Rakowicz M, Richter P, Ryglewicz D, Witkowski G, Zdzienicka E, Suek A, Krysa W, Guedes L, Coelho M, Mendes T, Valadas A, Cavaco S, Damásio J, Magalhães M, Gago M, Garrett C, Guerra MR, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso Frech F, Rabasa Perez M, Fenollar M, García R, Quiroga PP, Vázquez Rivera S, Villanueva C, Bascuñana M, Fatás Ventura M, García Ribas G, García de Yébenes J, López Sendón Moreno JL, García Ruíz PJ, José Saiz Artiga M, Sánchez V, Noguera Perea F, Lorenza F, Torres MM, Reinante G, Vivancos Moreau L, Barbera MA, Badenes Guia D, Hernanz LC, Catena JL, Ferrer PQ, Tome Carruesco G, Bas J, Busquets N, Calopa M, Dalmau Elorza M, Díez C, López A, Durán S, Terol S, Floriach Robert M, Garzón Ruíz B, González Casado A, Haro Martínez I, Viladrich CM, Pons i. Càrdenas R, Roca E, Llesoy JR, Ruiz Idiago JM, Ruíz Vergara M, Soriano García S, Villa Riballo A, Gorospe A, Legarda I, Arques PN, Torres Rodríguez MJ, Vives B, Gaston I, Bosca M, Burguera JA, Garcia AC, Pålhagen SE, Paucar M, Svenningsson P, Walldén Reza Soltani T, Höglund A, Sandström B, Høsterey Ugander U, Fredlund G, Constantinescu R, Neleborn Lingefjärd L, Tedroff J, Esmaeilzadeh M, Winnberg E, Burgunder Y, Stebler Y, Kaelin A, Romero I, Schüpbach M, Zaugg SW, Jack R, Matheson K, Miedzybrodzka Z, Rae D, Simpson S, Summers F, Ure A, Crooks J, Curtis A, de Souza J, Rickards H, Wright J, Barker RA, Di Pietro A, Fisher K, Goodman A, Hill S, Kershaw A, Mason S, Paterson N, Raymond L, Bisson J, Busse M, Clenaghan C, Ellison Rose L, Hunt S, Price K, Rosser A, Edwards M, Hughes T, McGill M, Pearson P, Porteous M, Smith P, Zeman A, Causley A, Harrower T, Howcroft D, Lambord N, Rankin J, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Miller J, Ritchie S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Barnes K, Chu C, Hobson E, Jamieson S, Markova I, Thomson J, Toscano J, Wild S, Yardumian P, Bourne C, Clayton C, Dipple H, Clapton J, Grant J, Gross D, Hallam C, Middleton J, Murch A, Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Lashwood A, Robertson D, Ruddy D, Whaite A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Henley S, Lahiri N, Novak M, Patel A, Read J, Rosser E, Say M, Tabrizi S, Taylor R, Warner T, Wild E, Arran N, Callaghan J, Craufurd D, Fullam R, Howard L, Huson S, Oughton E, Partington Jones L, Snowden J, Sollom A, Stopford C, Thompson J, Trender Gerhad I, Verstraelen N, Westmoreland L, Nemeth AH, Suida G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Tidswell K.

المساهمون: Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, CollaboratorsBarth K, European Huntington’s Disease N. e. t. w. o. r. k., Correia Guedes, L, Maria Finisterra, A, Bascuñana Garde, M, Bos, R, Ecker, D, Held, C, Koppers, K, Laurà, M, Martínez Descals, A, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Šašinková, P, Cubillo, Pt, van Walsem, Mr, Witjes Ané, Mn, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bachoud Lévi, Ac, Bentivoglio, Ar, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, Em, Ribaï, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J

العلاقة: volume:20; issue:1; firstpage:20; lastpage:26; numberofpages:7; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11586/57131Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-83255194123

الإتاحة: http://hdl.handle.net/11586/57131Test

المؤلفون: Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Déry C, Goizet C, King MD, Klepper J, Lacombe D, Lyall H, Martínez Frías ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JB, Tacke U, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP, Jackson AP, FAZZI, ELISA MARIA, LANZI, GIUSEPPE

المساهمون: Crow, Yj, Leitch, A, Hayward, Be, Garner, A, Parmar, R, Griffith, E, Ali, M, Semple, C, Aicardi, J, Babul Hirji, R, Baumann, C, Baxter, P, Bertini, E, Chandler, Ke, Chitayat, D, Cau, D, Déry, C, Fazzi, ELISA MARIA, Goizet, C, King, Md, Klepper, J, Lacombe, D, Lanzi, Giuseppe, Lyall, H, Martínez Frías, Ml, Mathieu, M, Mckeown, C, Monier, A, Oade, Y, Quarrell, Ow, Rittey, Cd, Rogers, Rc, Sanchis, A, Stephenson, Jb, Tacke, U, Till, M, Tolmie, Jl, Tomlin, P, Voit, T, Weschke, B, Woods, Cg, Lebon, P, Bonthron, Dt, Ponting, Cp, Jackson, Ap

مصطلحات موضوعية: MUTATIONS, GENES, AICARDI GOUTIÈRES SYNDROME, VIRAL BRAIN INFECTION

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16845400; volume:38; issue:8; firstpage:910; lastpage:916; journal:NATURE GENETICS; http://hdl.handle.net/11571/30346Test

الإتاحة: http://hdl.handle.net/11571/30346Test

المؤلفون: STEWART DR, HUANG A, FARAVELLI F, ANDERLID BM, MEDNE L, CIPRERO K, KAUR M, ROSSI, ELENA, TENCONI R, NORDENSKJOLD M, GRIPP KW, NICHOLSON L, MESCHINO WS, CAPUA E, QUARRELL OW, FLINT J, IRONS M, GIAMPIETRO PF, SCHOWALTER DB, ZALESKI CA, MALACARNE M, ZACKAI EH, SPINNER NB, KRANTZ ID

المساهمون: Stewart, Dr, Huang, A, Faravelli, F, Anderlid, Bm, Medne, L, Ciprero, K, Kaur, M, Rossi, Elena, Tenconi, R, Nordenskjold, M, Gripp, Kw, Nicholson, L, Meschino, W, Capua, E, Quarrell, Ow, Flint, J, Irons, M, Giampietro, Pf, Schowalter, Db, Zaleski, Ca, Malacarne, M, Zackai, Eh, Spinner, Nb, Krantz, Id

مصطلحات موضوعية: "SUBTELOMERIC DELETIONS", "FLUORESCENT IN SITU HYBRIDIZATION", "MENTAL RETARDATION"

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/15264279; info:eu-repo/semantics/altIdentifier/wos/WOS:000222950000002; volume:128A; issue:4; firstpage:340; lastpage:351; numberofpages:12; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11571/114936Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-3342894655

الإتاحة: http://hdl.handle.net/11571/114936Test