المؤلفون: Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Berges M, Glasgow RIC, Thompson K, Olahova M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H, Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG

المصدر: American Journal of Human Genetics, 2 January 2025

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/303503; https://eprints.ncl.ac.uk/fulltext.aspx?url=303503/922AD009-FB94-4872-A518-4DC14C02B1D6.pdf&pub_id=303503

الاتاحة: https://eprints.ncl.ac.uk/303503

المؤلفون: Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodriguez-Palmero A, Schluter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W, Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG

المصدر: American Journal of Human Genetics, 4 November 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/278259; https://eprints.ncl.ac.uk/fulltext.aspx?url=278259/2B636B3A-323A-43AA-AB30-7517BB0E3627.pdf&pub_id=278259

الاتاحة: https://eprints.ncl.ac.uk/278259

المؤلفون: Hochberg, I, Demain, LAM, Richer, J, Thompson, K, Pagarkar, W, Seuma, ARP, Verdura, E, Pujol, A, Amberger, A, Deutschmann, AJ, Demetz, S, O'Sullivan, J, Gillespie, M, Belyantseva, IA, McMillan, HJ, Barzik, M, Urquhart, JE, Rea, A, Beaman, GM, Williams, SG, Bhaskar, SS, Lawrence, IR, Jenkinson, EM, Zambonin, JL, Blumenfeld, Z, Yalonetsky, S, Oerum, S, Rossmanith, W, Yue, WW, Zschocke, J, Munro, KJ, Battersby, BJ, Friedman, TB, Taylor, RW, O'Keefe, RT, Newman, WG

المصدر: European Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::b91a97209c5a137b56f9e0d5a8327d25
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7266

المؤلفون: Campeau, PM, Kasperaviciute, D, Lu, JT, Burrage, LC, Kim, C, Hori, M, Powell, BR, Stewart, F, Félix, TM, van den Ende, J, Wisniewska, M, Kayserili, H, Rump, P, Nampoothiri, S, Aftimos, S, Mey, A, Nair, LD, Begleiter, ML, De Bie, I, Meenakshi, G, Murray, ML, Repetto, GM, Golabi, M, Blair, E, Male, A, Giuliano, F, Kariminejad, A, Newman, WG, Bhaskar, SS, Dickerson, JE, Kerr, B, Banka, S, Giltay, JC, Wieczorek, D, Tostevin, A, Wiszniewska, J, Cheung, SW, Hennekam, RC, Gibbs, RA, Lee, BH, Sisodiya, SM

المصدر: Lancet Neurology , 13 (1) pp. 44-58. (2014)

مصطلحات موضوعية: Adolescent, Carrier Proteins, Child, Preschool, Craniofacial Abnormalities, Exome, Female, Hand Deformities, Congenital, Hearing Loss, Sensorineural, Humans, Infant, Intellectual Disability, Internationality, Male, Nails, Malformed, Phenotype, Sequence Analysis, DNA, Young Adult

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1413631/1/1-s2.0-S1474442213702655-main.pdf; https://discovery.ucl.ac.uk/id/eprint/1413631/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1413631/1/1-s2.0-S1474442213702655-main.pdf
https://discovery.ucl.ac.uk/id/eprint/1413631/

المؤلفون: Ghosh A, Schlecht H, Heptinstall LE, Bassett JK, Cartwright E, Bhaskar SS, Urquhart J, Broomfield A, Morris AAM, Jameson E, Schwahn BC, Walter JH, Douzgou S, Murphy H, Hendriksz C, Sharma R, Wilcox G, Crushell E, Monavari AA, Martin R, Doolan A, Senniappan S, Ramsden SC, Jones SA, Banka S

المصدر: Archives of Disease in Childhood, May 03, 2017

Relation: https://eprints.ncl.ac.uk/240352

الاتاحة: https://eprints.ncl.ac.uk/240352

المؤلفون: Demain LAM, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG

المصدر: Clinical Genetics, 1 February 2017

Relation: https://eprints.ncl.ac.uk/235536

الاتاحة: https://eprints.ncl.ac.uk/235536

المؤلفون: Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

المساهمون: Jenkinson, Em, Rodero, Mp, Kasher, Pr, Uggenti, C, Oojageer, A, Goosey, Lc, Rose, Y, Kershaw, Cj, Urquhart, Je, Williams, Sg, Bhaskar, S, O'Sullivan, J, Baerlocher, Gm, Haubitz, M, Aubert, G, Barañano, Kw, Barnicoat, Aj, Battini, R, Berger, A, Blair, Em, Brunstrom-Hernandez, Je, Buckard, Ja, Cassiman, Dm, Caumes, R, Cordelli, Dm, De Waele, Lm, Fay, Aj, Ferreira, P, Fletcher, Na, Fryer, Ae, Goel, H, Hemingway, Ca, Henneke, M, Hughes, I, Jefferson, Rj, Kumar, R, Lagae, L, Landrieu, Pg, Lourenço, Cm, Malpas, Tj, Mehta, Sg, Metz, I, Naidu, S, Õunap, K, Panzer, A, Prabhakar, P, Quaghebeur, G, Schiffmann, R, Sherr, Eh, Sinnathuray, Kr, Soh, C, Stewart, H, Stone, J, Van Esch, H, Van Mol, Ce, Vanderver, A, Wakeling, El, Whitney, A, Pavitt, Gd, Griffiths-Jones, S, Rice, Gi, Revy, P, van der Knaap, M, Livingston, Jh, O'Keefe, Rt, Crow, Yj.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/28138155; info:eu-repo/semantics/altIdentifier/wos/WOS:000393148600024; volume:49; issue:2; firstpage:317; lastpage:317; numberofpages:1; journal:NATURE GENETICS; http://hdl.handle.net/11568/951342

الاتاحة: http://hdl.handle.net/11568/951342
https://doi.org/10.1038/ng0217-317b

المؤلفون: Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel Salem GM, Babul Hirji R, Baxter P, Berger A, Bonafé L, Brunstom Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ, GARONE, CATERINA

المساهمون: Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ

Relation: info:eu-repo/semantics/altIdentifier/pmid/22267198; info:eu-repo/semantics/altIdentifier/wos/WOS:000300843600023; volume:44; firstpage:338; lastpage:342; numberofpages:4; journal:NATURE GENETICS; http://hdl.handle.net/2318/142832; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84863393024

الاتاحة: http://hdl.handle.net/2318/142832
https://doi.org/10.1038/ng.1084

المؤلفون: Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, Del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ.

المساهمون: Rice, Gi, Kasher, Pr, Forte, Gm, Mannion, Nm, Greenwood, Sm, Szynkiewicz, M, Dickerson, Je, Bhaskar, S, Zampini, M, Briggs, Ta, Jenkinson, Em, Bacino, Ca, Battini, R, Bertini, E, Brogan, Pa, Brueton, La, Carpanelli, M, De Laet, C, de Lonlay, P, Del Toro, M, Desguerre, I, Fazzi, E, Garcia-Cazorla, A, Heiberg, A, Kawaguchi, M, Kumar, R, Lin, Jp, Lourenco, Cm, Male, Am, Marques, W Jr, Mignot, C, Olivieri, I, Orcesi, S, Prabhakar, P, Rasmussen, M, Robinson, Ra, Rozenberg, F, Schmidt, Jl, Steindl, K, Tan, Ty, van der Merwe, Wg, Vanderver, A, Vassallo, G, Wakeling, El, Wassmer, E, Whittaker, E, Livingston, Jh, Lebon, P, Suzuki, T, Mclaughlin, Pj, Keegan, Lp, O'Connell, Ma, Lovell, Sc, Crow, Yj.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000310495800017; journal:NATURE GENETICS; http://hdl.handle.net/11568/951236; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84868207785

الاتاحة: http://hdl.handle.net/11568/951236
https://doi.org/10.1038/ng.2414

المؤلفون: Douzdijian V, Bhaskar SS, Baliga PK, Gugliuzza KK, Rajagopalan PR, Douzdjian, V, Bhaskar, S S, Baliga, P K, Gugliuzza, K K, Rajagopalan, P R

المصدر: Diabetes Care; Aug1997, Vol. 20 Issue 8, p1310-1314, 5p

المؤلفون: Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou F, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock F, O'Sullivan JJ, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney B

المصدر: Circulation Research

Relation: https://eprints.ncl.ac.uk/253587

الاتاحة: https://eprints.ncl.ac.uk/253587

المؤلفون: Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpass L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Bohmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Luedecke HJ, Strom TM

المصدر: American Journal of Human Genetics

Relation: https://eprints.ncl.ac.uk/209336

الاتاحة: https://eprints.ncl.ac.uk/209336