المؤلفون: Schueler, M, Braun, DA, Chandrasekar, G, Gee, HY, Klasson, TD, Halbritter, J, Bieder, A, Porath, JD, Airik, R, Zhou, WB, LoTurco, JJ, Che, A, Otto, EA, Bockenhauer, D, Sebire, NJ, Honzik, T, Harris, PC, Koon, SJ, Gunay-Aygun, M, Saunier, S, Zerres, K, Bruechle, NO, Drenth, JPH, Pelletier, L, Tapia-Paez, I, Lifton, RP, Giles, RH, Kere, J, Hildebrandt, F

المصدر: American journal of human genetics. 96(1):81-92

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:130593507

المؤلفون: Sen, T, Ju, W, Nair, V, Ladd, P, Menon, R, Otto, EA, Pyle, L, Vigers, T, Nelson, RG, Arnott, C, Neal, B, Hansen, MK, Kretzler, M, Bjornstad, P, Heerspink, HJL

المصدر: urn:ISSN:0085-2538 ; urn:ISSN:1523-1755 ; Kidney International, 104, 4, 828-839

مصطلحات موضوعية: 32 Biomedical and Clinical Sciences, 3202 Clinical Sciences, Diabetes, Genetics, Clinical Trials and Supportive Activities, Clinical Research, Women's Health, Kidney Disease, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Metabolic and endocrine, Renal and urogenital, Humans, Canagliflozin, Cardiovascular Diseases, Diabetes Mellitus, Type 2, Epidermal Growth Factor, Glucose, Sodium, Sodium-Glucose Transporter 2, Sodium-Glucose Transporter 2 Inhibitors, EGF, RNA sequencing, SGTL2, mRNA, type 2 diabetes, anzsrc-for: 32 Biomedical and Clinical Sciences, anzsrc-for: 3202 Clinical Sciences, anzsrc-for: 1103 Clinical Sciences

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_84495; https://doi.org/10.1016/j.kint.2023.07.007

الاتاحة: http://hdl.handle.net/1959.4/unsworks_84495
https://unsworks.unsw.edu.au/bitstreams/a0a23989-0ab9-4d1b-8341-7c591e80ad65/download
https://doi.org/10.1016/j.kint.2023.07.007

المؤلفون: Arminen, Ilkka, Segersven, Otto EA, Simonen, Mika

المصدر: Acta Sociologica, 2019 Nov 01. 62(4), 391-405.

URL الوصول: https://www.jstor.org/stable/48561356

المؤلفون: Otto, EA, Schermer, B, Obara, T, O'Toole, JF, Hiller, KS, Mueller, AM, Beekmann, F, Hoefele, J, Landau, D, Foreman, JW, Goodship, JA, Strachan, T, Kispert, A, Wolf, MT, Gagnadoux, MF, Nivet, H, Antignac, C, Walz, G, Drummond, IA, Benzing, T, Hildebrandt, F

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing, Animals, Base Sequence, Body Patterning, Child, Cilia, Cytoskeletal Proteins, DNA, Female, Gene Targeting, Humans, Kidney Diseases, Cystic, Male, Membrane Proteins, Molecular Sequence Data, Mutation, Polycystic Kidney, Autosomal Recessive, Proteins, Situs Inversus, Transcription Factors, Tubulin, Zebrafish

جغرافية الموضوع: Los Angeles, California

وصف الملف: Print; application/pdf

Relation: https://www.ncbi.nlm.nih.gov/pubmed/12872123; https://hdl.handle.net/2027.42/191561; https://dx.doi.org/10.7302/21845; Nature Genetics; orcid:0000-0002-2387-9973; 34; 413; 420; Otto, EA; 0000-0002-2387-9973; Schermer, B; Obara, T; O'Toole, JF; Hiller, KS; Mueller, AM; Beekmann, F; Hoefele, J; Landau, D; Foreman, JW; Goodship, JA; Strachan, T; Kispert, A; Wolf, MT; Gagnadoux, MF; Nivet, H; Antignac, C; Walz, G; Drummond, IA; Benzing, T; Hildebrandt, F

الاتاحة: https://hdl.handle.net/2027.42/191561
https://www.ncbi.nlm.nih.gov/pubmed/12872123
https://doi.org/10.1038/ng1217
https://doi.org/10.7302/21845

المؤلفون: Reichold, M, Klootwijk, ED, Reinders, J, Otto, EA, Milani, M, Broeker, C, Laing, C, Wiesner, J, Devi, S, Zhou, W, Schmitt, R, Tegtmeier, I, Sterner, C, Doellerer, H, Renner, K, Oefner, PJ, Dettmer, K, Simbuerger, JM, Witzgall, R, Stanescu, HC, Dumitriu, S, Iancu, D, Patel, V, Mozere, M, Tekman, M, Jaureguiberry, G, Issler, N, Kesselheim, A, Walsh, SB, Gale, DP, Howie, AJ, Martins, JR, Hall, AM, Kasgharian, M, O'Brien, K, Ferreira, CR, Atwal, PS, Jain, M, Hammers, A, Charles-Edwards, G, Choe, C-U, Isbrandt, D, Cebrian-Serrano, A, Davies, B, Sandford, RN, Pugh, C, Konecki, DS, Povey, S, Bockenhauer, D, Lichter-Konecki, U, Gahl, WA, Unwin, RJ, Warth, R, Kleta, R

Relation: https://ora.ox.ac.uk/objects/uuid:57e146d1-bfee-48e7-b94e-be3c50aaad2d; https://doi.org/10.1681/asn.2017111179

الاتاحة: https://doi.org/10.1681/asn.2017111179
https://ora.ox.ac.uk/objects/uuid:57e146d1-bfee-48e7-b94e-be3c50aaad2d

المؤلفون: Halbritter, J, Bizet, AA, Schmidts, M, Porath, JD, Braun, DA, Gee, HY, McInerney-Leo, AM, Krug, P, Filhol, E, Davis, EE, Airik, R, Czarnecki, PG, Lehman, AM, Trnka, P, Nitschké, P, Bole-Feysot, C, Schueler, M, Knebelmann, B, Burtey, S, Szabó, AJ, Tory, K, Leo, PJ, Gardiner, B, McKenzie, FA, Zankl, A, Brown, MA, Hartley, JL, Maher, ER, Li, C, Leroux, MR, Scambler, PJ, Zhan, SH, Jones, SJ, Kayserili, H, Tuysuz, B, Moorani, KN, Constantinescu, A, Krantz, ID, Kaplan, BS, Shah, JV, UK10K Consortium, Hurd, TW, Doherty, D, Katsanis, N, Duncan, EL, Otto, EA, Beales, PL, Mitchison, HM, Saunier, S, Hildebrandt, F

المصدر: Am J Hum Genet , 93 (5) pp. 915-925. (2013)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/1418407/1/1-s2.0-S0002929713004527-main.pdf; https://discovery.ucl.ac.uk/id/eprint/1418407/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1418407/1/1-s2.0-S0002929713004527-main.pdf
https://discovery.ucl.ac.uk/id/eprint/1418407/

المؤلفون: Arminen, Ilkka, Segersven, Otto EA, Simonen, Mika

المساهمون: Koneen Säätiö

المصدر: Acta Sociologica ; volume 62, issue 4, page 391-405 ; ISSN 0001-6993 1502-3869

الاتاحة: http://dx.doi.org/10.1177/0001699318786361
http://journals.sagepub.com/doi/pdf/10.1177/0001699318786361
http://journals.sagepub.com/doi/full-xml/10.1177/0001699318786361

المؤلفون: Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, Verine J, Reade R, Soliman H, Godin M, Kiss D, Monga G, Amann K, Artunc F, Newland RC, Wiech T, Zschiedrich S, Huber TB, Friedl A, Slaats GG, Joles JA, Goldschmeding R, Washburn J, Giles RH, Levy S, Smogorzewska A, Hildebrandt F., MAZZUCCO, Gianna

المساهمون: Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, Verine J, Reade R, Soliman H, Godin M, Kiss D, Monga G, Mazzucco G, Amann K, Artunc F, Newland RC, Wiech T, Zschiedrich S, Huber TB, Friedl A, Slaats GG, Joles JA, Goldschmeding R, Washburn J, Giles RH, Levy S, Smogorzewska A, Hildebrandt F

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/22772369; info:eu-repo/semantics/altIdentifier/wos/WOS:000306854700017; ispartofbook:Nature genetics; volume:44; issue:8; firstpage:910; lastpage:915; numberofpages:6; journal:NATURE GENETICS; http://hdl.handle.net/2318/135155; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84864413963; http://www.nature.com/ng/journal/v44/n8/full/ng.2347.html

الاتاحة: http://hdl.handle.net/2318/135155
https://doi.org/10.1038/ng.2347
http://www.nature.com/ng/journal/v44/n8/full/ng.2347.html

المؤلفون: VALENTE, Enza Maria, Logan CV, Mougou Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié Bitach T, Gleeson J.G.

المساهمون: Valente, Enza Maria, Logan, Cv, Mougou Zerelli, S, Lee, Jh, Silhavy, Jl, Brancati, F, Iannicelli, M, Travaglini, L, Romani, S, Illi, B, Adams, M, Szymanska, K, Mazzotta, A, Lee, Je, Tolentino, Jc, Swistun, D, Salpietro, Cd, Fede, C, Gabriel, S, Russ, C, Cibulskis, K, Sougnez, C, Hildebrandt, F, Otto, Ea, Held, S, Diplas, Bh, Davis, Ee, Mikula, M, Strom, Cm, Ben Zeev, B, Lev, D, Sagie, Tl, Michelson, M, Yaron, Y, Krause, A, Boltshauser, E, Elkhartoufi, N, Roume, J, Shalev, S, Munnich, A, Saunier, S, Inglehearn, C, Saad, A, Alkindy, A, Thomas, S, Vekemans, M, Dallapiccola, B, Katsanis, N, Johnson, Ca, Attié Bitach, T, Gleeson, J. G.

Relation: info:eu-repo/semantics/altIdentifier/pmid/20512146; info:eu-repo/semantics/altIdentifier/wos/000279242400016; volume:42; firstpage:619; lastpage:625; numberofpages:7; journal:NATURE GENETICS; http://hdl.handle.net/11386/3949726

الاتاحة: http://hdl.handle.net/11386/3949726
https://doi.org/10.1038/ng.594

المؤلفون: Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Groene H. J, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FPM, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Williams DS, Gleeson J.G., VALENTE, Enza Maria

المساهمون: Louie, Cm, Caridi, G, Lopes, V, Brancati, F, Kispert, A, Lancaster, Ma, Schlossman, Am, Otto, Ea, Leitges, M, Groene H., J, Lopez, I, Gudiseva, Hv, O'Toole, Jf, Vallespin, E, Ayyagari, R, Ayuso, C, Cremers, Fpm, den Hollander, Ai, Koenekoop, Rk, Dallapiccola, B, Ghiggeri, Gm, Hildebrandt, F, Valente, Enza Maria, Williams, D, Gleeson, J. G.

Relation: info:eu-repo/semantics/altIdentifier/pmid/20081859; info:eu-repo/semantics/altIdentifier/wos/000274084400017; volume:42; firstpage:175; lastpage:180; numberofpages:6; journal:NATURE GENETICS; http://hdl.handle.net/11386/3949730

الاتاحة: http://hdl.handle.net/11386/3949730
https://doi.org/10.1038/ng.519

المؤلفون: Cantagrel V, Silhavy JL, Bielas S, Swistun D, Marsh SE, Bertrand J, Audollent S, Attié Bitach T, Holden KR, Dobyns WB, Traver D, Al Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, Grattan Smith P, Leventer J, Van Coster R, Dias K, Moco C, Moreira, Ae Kim C, AKiss A, Maegawa G, Abdel Salam GMH, Abdel Aleem A, Zaki MS, Marti I, Quijano Roy S, de Lonlay P, A. Verloes A, Touraine R, Koenig M, Lagier Tourenne C, Messer J, Philippi H, Tzeli SK, Halldorsson S, Johannsdottir J, Ludvigsson P, Magee A, Stuart B, Lev D, Michelson M, Ben Zeev B, Fischetto R, Gentile M, Battaglia, Giordano L, Boccone L, Ruggieri M, Bigoni S, Ferlini A, Donati MA, Procopio E, Lapi E, Genuardi M, Caridi G, Faravelli F, Ghiggeri G, D’Arrigo S, Pantaleoni C, Riva D, Uziel G, Laverda AM, Permunian A, Bova S, Fazz Ei, Sabrina S, Battini R, Bertini E, Dallapiccola B, Cilio MR, Di Sabato M, Emma F, Leuzzi V, Parisi P, Simonati A, Al Tawari AA, Bastaki L, Ahmad Aqueel A, Jong MM, Koul R, Rajab A, Sztriha L, Azam M, Barbot C, Rodriguez B, Pascual Castroviejo I, Eugen Boltshauser E, Hulya H, Comu S, Akcakus M, Sahin Y, Phadke SR, Melick N, Mikati M, Nicholl D, Hurst J, Hennekam RCM, Bernes S, Sanchez H, Clark AE, Wynshaw Boris A, Donahue C, Sherr EH, Barkovich AJ, Hahn D., Sanger TD, Gallager TE, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, Soul, JMcKanna T, Joanne Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Amy Goldstein A, Caldwell J, Finsecke E, Maria BL, Cruse RP, LotzeTE, Swoboda KJ, Viskochil DH, Valente EM, Woods CG, Gleeson JG, BRIUGLIA, Silvana, TORTORELLA, Gaetano, RIGOLI, Luciana Concetta, SALPIETRO DAMIANO, Carmelo

المساهمون: Cantagrel, V, Silhavy, Jl, Bielas, S, Swistun, D, Marsh, Se, Bertrand, J, Audollent, S, Attié Bitach, T, Holden, Kr, Dobyns, Wb, Traver, D, Al Gazali, L, Ali, Br, Lindner, Th, Caspary, T, Otto, Ea, Hildebrandt, F, Glass, Ia, Logan, Cv, Johnson, Ca, Bennett, C, Brancati, F, Grattan Smith, P, Leventer, J, Van Coster, R, Dias, K, Moco, C, Moreira, Ae Kim, C, Akiss, A, Maegawa, G, Abdel Salam, Gmh, Abdel Aleem, A, Zaki, M, Marti, I, Quijano Roy, S, de Lonlay, P, A., Verloes A, Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Magee, A, Stuart, B, Lev, D, Michelson, M, Ben Zeev, B, Fischetto, R, Gentile, M, Battaglia, Giordano, L, Boccone, L, Ruggieri, M, Bigoni, S, Ferlini, A, Donati, Ma, Procopio, E, Lapi, E, Genuardi, M, Caridi, G, Faravelli, F, Ghiggeri, G, Briuglia, Silvana, Tortorella, Gaetano, Rigoli, Luciana Concetta, SALPIETRO DAMIANO, Carmelo, D’Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Laverda, Am, Permunian, A, Bova, S, Fazz, Ei, Sabrina, S, Battini, R, Bertini, E, Dallapiccola, B, Cilio, Mr, Di Sabato, M, Emma, F, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari, Aa, Bastaki, L, Ahmad Aqueel, A, Jong, Mm, Koul, R, Rajab, A, Sztriha, L, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I

مصطلحات موضوعية: ADP-Ribosylation Factor, Abnormalities, Multiple, Animal, Brain Disease, Chromosome Mapping, Cilia, Computational Biology, Conserved Sequence, Human, Molecular Sequence Data, Neuron, Syndrome, Zebrafish, Genetic Predisposition to Disease, Mutation, Genetics

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/18674751; info:eu-repo/semantics/altIdentifier/wos/WOS:000258418200002; volume:83; issue:2; firstpage:170; lastpage:179; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11570/3101035; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-48349109103

الاتاحة: http://hdl.handle.net/11570/3101035
https://doi.org/10.1016/j.ajhg.2008.06.023

المؤلفون: HELOU J, OTTO EA, ATTANASIO M, ALLEN SJ, PARISI MA, GLASS I, UTSCH B, HASHMI S, OMRAN H, O'TOOLE JF, SAYER JA, HILDEBRANDT F., FAZZI, ELISA MARIA

المساهمون: Helou, J, Otto, Ea, Attanasio, M, Allen, Sj, Parisi, Ma, Glass, I, Utsch, B, Hashmi, S, Fazzi, ELISA MARIA, Omran, H, O'Toole, Jf, Sayer, Ja, Hildebrandt, F.

مصطلحات موضوعية: NPHP6/CEP290, Joubert syndrome, Senior–Løken syndrome, nephronophthisi, mutational analysis

وصف الملف: STAMPA

Relation: volume:44; issue:10; firstpage:657; lastpage:663; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11571/106548

الاتاحة: http://hdl.handle.net/11571/106548

المؤلفون: Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F

المصدر: Nature Genetics, 07-05-2006

Relation: https://eprints.ncl.ac.uk/73939

الاتاحة: https://eprints.ncl.ac.uk/73939

المؤلفون: Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F

المصدر: Nature Genetics, 20-02-2005

Relation: https://eprints.ncl.ac.uk/20463

الاتاحة: https://eprints.ncl.ac.uk/20463

المؤلفون: Failler, M Failler, Marion, Gee, HY Gee, Heon Yung, Krug, P Krug, Pauline, Joo, KS Joo, Kwangsic, Halbritter, J Halbritter, Jan, Belkacem, L Belkacem, Lilya, Filhol, E Filhol, Emilie, Porath, JD Porath, Jonathan D., Braun, DA Braun, Daniela A., Schueler, M Schueler, Markus, Frigo, A Frigo, Amandine, Alibeu, O Alibeu, Olivier, Masson, C Masson, Cecile, Brochard, K Brochard, Karine, de Ligny, BH de Ligny, Bruno Hurault, Novo, R Novo, Robert, Pietrement, C Pietrement, Christine, Kayserili, H Kayserili, Hulya, Salomon, R Salomon, Remi, Gubler, MC Gubler, Marie-Claire, Otto, EA Otto, Edgar A., Antignac, C Antignac, Corinne, Kim, J Kim, Joon, Benmerah, A Benmerah, Alexandre, Hildebrandt, F Hildebrandt, Friedhelm, Saunier, S Saunier, Sophie

مصطلحات موضوعية: RENAL CILIOPATHIES, MOTHER CENTRIOLE, CAUSE JEUNE, CILIARY, DOCKING, CEP164, DEFECTS, DISEASE, COMPLEX

الاتاحة: http://hdl.handle.net/10203/189421
https://doi.org/10.1016/j.ajhg.2014.05.002

المؤلفون: Ashraf, S, Lovric, S, Fang, H, Vega-Warner, V, Sadowski, CE, Gee, HY, Halbritter, J, Saisawat, P, Soliman, NA, Kari, JA, Otto, EA, Hildebrandt, F, Nephrotic, Syndrome

Relation: 7723b8a0-fb8d-42ea-97e4-a129f53cd95d; https://avesis.erciyes.edu.tr/publication/details/7723b8a0-fb8d-42ea-97e4-a129f53cd95d/oai

الاتاحة: https://doi.org/10.2215/cjn.09010813
https://avesis.erciyes.edu.tr/publication/details/7723b8a0-fb8d-42ea-97e4-a129f53cd95d/oai

المؤلفون: Otto EA, Schermer B, Obara T, O'Toole JF, Landau D, Goodship JA, Strachan T, Antignac C, Walz G, Drummond LA, Benzing T, Hildebrandt F

المصدر: Journal of the American Society of Nephrology: 36th Annual Meeting of the American Society of Nephrology, 12-17 November 2003

Relation: https://eprints.ncl.ac.uk/86117

الاتاحة: https://eprints.ncl.ac.uk/86117

المؤلفون: Ashraf S, Gee HY, Woerner S, Xie LTX, Vega-Warner V, Lovric S, Fang H, Song XW, Cattran DC, Avila-Casado C, Paterson AD, Nitschke P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou WB, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Bockenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F

المصدر: Journal of Clinical Investigation, 01-12-2013

Relation: https://eprints.ncl.ac.uk/200045

الاتاحة: https://eprints.ncl.ac.uk/200045

المؤلفون: Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschke P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó, Attila, Tory, Kálmán, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV, UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F

المساهمون: SE/AOK/K/I. Sz. Gyermekgyógyászati Klinika, Semmelweis Egyetem

Relation: urn:issn:0002-9297; http://repo.lib.semmelweis.hu//handle/123456789/1972; 2446252; 000326996600012

الاتاحة: http://repo.lib.semmelweis.hu//handle/123456789/1972
https://doi.org/10.1016/j.ajhg.2013.09.012

المؤلفون: Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJF, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Ysunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Joles JA, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EYHP, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F

المصدر: Cell, 03-08-2012

Relation: https://eprints.ncl.ac.uk/185053

الاتاحة: https://eprints.ncl.ac.uk/185053