المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, de Villemeur, TB, Heron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, CR, Soerensen, KP, Kibaek, M, Kamsteeg, EJ, Koolen, DA, Gunning, B, Schelhaas, HJ, Kruer, MC, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, SC, Zeng, X, Bilguvar, K, Papavasileiou, A, Xin, QH, Zhu, CL, Boysen, K, Vairo, F, Lanpher, BC, Klee, EW, Tillema, JM, Payne, ET, Cousin, MA, Kruisselbrink, TM, Wick, MJ, Baker, J, Haan, E, Smith, N, Corbett, MA, MacLennan, AH, Gecz, J, Biskup, S, Goldmann, E, Rodan, LH, Kichula, E, Segal, E, Jackson, KE, Asamoah, A, Dimmock, D, McCarrier, J, Botto, LD, Filloux, F, Tvrdik, T, Cascino, GD, Klingerman, S, Neumann, C, Wang, R, Jacobsen, JC, Nolan, MA, Snell, RG, Lehnert, K, Sadleir, LG, Anderlid, BM, Kvarnung, M, Guerrini, R, Friez, MJ, Lyons, MJ, Leonhard, J, Kringlen, G, Casas, K, El Achkar, CM, Smith, LA, Rotenberg, A, Poduri, A, Sanchis-Juan, A, Carss, KJ, Rankin, J, Zeman, A, Raymond, FL, Blyth, M, Kerr, B, Ruiz, K, Urquhart, J, Hughes, I, Banka, S, Hedrich, UBS, Scheffer, IE, Helbig, I, Zamponi, GW, Lerche, H, Mefford, HC

المصدر: American journal of human genetics. 103(5):666-678

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:139492388Test

المؤلفون: Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, de Villemeur, TB, Heron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, CR, Soerensen, KP, Kibaek, M, Kamsteeg, EJ, Koolen, DA, Gunning, B, Schelhaas, HJ, Kruer, MC, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, SC, Zeng, X, Bilguvar, K, Papavasileiou, A, Xing, QH, Zhu, CL, Boysen, K, Vairo, F, Lanpher, BC, Klee, EW, Tillema, JM, Payne, ET, Cousin, MA, Kruisselbrink, TM, Wick, MJ, Baker, J, Haan, E, Smith, N, Sadeghpour, A, Davis, EE, Katsanis, N, Corbett, MA, MacLennan, AH, Gecz, J, Biskup, S, Goldmann, E, Rodan, LH, Kichula, E, Segal, E, Jackson, KE, Asamoah, A, Dimmock, D, McCarrier, J, Botto, LD, Filloux, F, Tvrdik, T, Cascino, GD, Klingerman, S, Neumann, C, Wang, R, Jacobsen, JC, Nolan, MA, Snell, RG, Lehnert, K, Sadleir, LG, Anderlid, BM, Kvarnung, M, Guerrini, R, Friez, MJ, Lyons, MJ, Leonhard, J, Kringlen, G, Casas, K, El Achkar, CM, Smith, LA, Rotenberg, A, Poduri, A, Sanchis-Juan, A, Carss, KJ, Rankin, J, Zeman, A, Raymond, FL, Blyth, M, Kerr, B, Ruiz, K, Urquhart, J, Hughes, I, Banka, S, Hedrich, UBS, Scheffer, IE, Helbig, I, Zamponi, GW, Lerche, H, Mefford, HC

المصدر: American journal of human genetics. 104(3):562-562

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:140457584Test

المؤلفون: Scott, HS, Zerella, J, Homan, C, Arts, P, Lin, S, Spinelli, SJ, Babic, M, Brautigan, PJ, Truong, L, Arriola-Martinez, L, Venugopal, P, Feurstein, SK, Larcher, L, De Fontbrune, FS, Demirdas, S, De Munnik, S, Poirel, H, Brichard, B, Dobbins, S, Mutsaers, P, DeMille, DS, Flores-Daboub, J, Drazer, MW, Crawford, A, McCarrier, J, Basel, DG, Phillips, K, Poplawski, NK, Birdsey, G, Pirri, D, Ostergaard, P, Simons, A, Godley, L, Ross, DM, Hiwase, D, Soulier, J, Brown, A, Carmichael, C, Hahn, CN

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/116108/6/blood-73562-main.pdfTest; Scott, HS; Zerella, J; Homan, C; Arts, P; Lin, S; Spinelli, SJ; Babic, M; Brautigan, PJ; Truong, L; Arriola-Martinez, L; et al. Scott, HS; Zerella, J; Homan, C; Arts, P; Lin, S; Spinelli, SJ; Babic, M; Brautigan, PJ; Truong, L; Arriola-Martinez, L; Venugopal, P; Feurstein, SK; Larcher, L; De Fontbrune, FS; Demirdas, S; De Munnik, S; Poirel, H; Brichard, B; Dobbins, S; Mutsaers, P; DeMille, DS; Flores-Daboub, J; Drazer, MW; Crawford, A; McCarrier, J; Basel, DG; Phillips, K; Poplawski, NK; Birdsey, G; Pirri, D; Ostergaard, P; Simons, A; Godley, L; Ross, DM; Hiwase, D; Soulier, J; Brown, A; Carmichael, C; Hahn, CN (2023) ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy. In: 65th ASH Annual Meeting and Exposition, BLOOD, December 9-12, 2023, San Diego, California. SGUL Authors: Ostergaard, Pia

الإتاحة: https://doi.org/10.1182/blood-2023-191986Test
https://openaccess.sgul.ac.uk/id/eprint/116108Test/
https://openaccess.sgul.ac.uk/id/eprint/116108/6/blood-73562-main.pdfTest

المؤلفون: Jolly, L.A., Parnell, E., Gardner, A.E., Corbett, M.A., Pérez-Jurado, L.A., Shaw, M., Lesca, G., Keegan, C., Schneider, M.C., Griffin, E., Maier, F., Kiss, C., Guerin, A., Crosby, K., Rosenbaum, K., Tanpaiboon, P., Whalen, S., Keren, B., McCarrier, J., Basel, D.

المصدر: http://dx.doi.org/10.1038/s41525-020-00162-9Test.

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/arc/DE160100620Test; http://purl.org/au-research/grants/nhmrc/628952Test; http://purl.org/au-research/grants/nhmrc/1041920Test; npj Genomic Medicine, 2020; 5(1):1-11; http://hdl.handle.net/2440/129748Test; Jolly, L.A. [0000-0003-4538-2658]; Gardner, A.E. [0009-0009-7321-1697]; Corbett, M.A. [0000-0001-9298-3072]; Shaw, M. [0000-0002-5060-190X]; Gecz, J. [0000-0002-7884-6861]

الإتاحة: https://doi.org/10.1038/s41525-020-00162-9Test
http://hdl.handle.net/2440/129748Test

المؤلفون: Logan, C, Murray, JE, Parry, DA, Robertson, A, Bellelli, R, Tarnauskaite, Z, Challis, R, Cleal, L, Bore, V, Fluteau, A, Santoyo-Lopez, J, Aitman, T, Barroso, I, Basel, D, Bicknell, LS, Goe, H, Hu, H, Huff, C, Hutchison, M, Joyce, C, Knox, R, Lacroix, AE, Langlois, S, McCandless, S, McCarrier, J, Metcalfe, KA, Morrissey, R, Murphy, N, Netchine, I, O'connell, SM, Olney, AH, Paria, N, Rosenfeld, JA, Sherlock, M, Syverson, E, White, PC, Wise, C, Yu, Y, Zacharin, M, Banerjee, I, Reijns, M, Bober, MB, Semple, RK, Boulton, SJ, Rios, JJ, Jackson, AP

العلاقة: pii: S0002-9297(18)30400-2; Logan, C., Murray, J. E., Parry, D. A., Robertson, A., Bellelli, R., Tarnauskaite, Z., Challis, R., Cleal, L., Bore, V., Fluteau, A., Santoyo-Lopez, J., Aitman, T., Barroso, I., Basel, D., Bicknell, L. S., Goe, H., Hu, H., Huff, C., Hutchison, M. ,. Jackson, A. P. (2018). DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. AMERICAN JOURNAL OF HUMAN GENETICS, 103 (6), pp.1038-1044. https://doi.org/10.1016Test/j.ajhg.2018.10.024.; http://hdl.handle.net/11343/250361Test

الإتاحة: https://doi.org/10.1016Test/j.ajhg.2018.10.024
http://hdl.handle.net/11343/250361Test

المؤلفون: Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, Soares MF, Kulikowski LD, Di-Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom RT, Cremona ML, Li WL, Malhotra A, Chandrasekhar A, Perry DL, Taft RJ, McCarrier J, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ16, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A

المساهمون: M. Moysés-Oliveira, G. Giannuzzi, R. Fish, J. Rosenfeld, F. Petit, M. Soare, L. Kulikowski, A. Di-Battista, M. Zamariolli, F. Xia, T. Liehr, N. Kosyakova, G. Carvalheira, M. Parker, E. Seaby, S. Enni, R. Gilbert, R. Hagelstrom, M. Cremona, W. Li, A. Malhotra, A. Chandrasekhar, D. Perry, R. Taft, J. Mccarrier, D. Basel, J. Andrieux, T. Stumpp, F. Antune, G. Pereira, M. Neerman-Arbez, V. Meloni, M. Drummond-Borg, M. Melaragno, A. Reymond

مصطلحات موضوعية: AMMECR1, bone dysplasia, growth delay, heart alteration, X-linked disease, Settore BIO/18 - Genetica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29193635; info:eu-repo/semantics/altIdentifier/wos/WOS:000419711500011; volume:39; issue:2; firstpage:281; lastpage:291; numberofpages:11; journal:HUMAN MUTATION; http://hdl.handle.net/2434/869387Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85038010872

الإتاحة: https://doi.org/10.1002/humu.23373Test
http://hdl.handle.net/2434/869387Test

المؤلفون: Wallerstein, R, Strmen, V, Durcan, J, White, S, Bar‐Lev, A, Pruski‐Clark, J, Wallerstein, D, McCarrier, J, Twersky, S

المصدر: Clinical Genetics ; volume 69, issue 6, page 497-503 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111Test/j.1399-0004.2006.00625.x

المؤلفون: Strmen, V., Wallerstein, R., Oh, T., Durcan, J., White, S., McCarrier, J., Wallerstein, D., Twersky, S.

المصدر: 252233.

مصطلحات موضوعية: Decision Making, Health, Health Care, Survey, Genetic Counseling / Prenatal Diagnosis, Demographic Surveys / Attitudes Toward Abortion, Abortion Counseling

وصف الملف: Article

العلاقة: Journal of Genetic Counseling 2002 December; 11(6): 518-519; http://hdl.handle.net/10822/522130Test

الإتاحة: http://hdl.handle.net/10822/522130Test

المؤلفون: Moysés-Oliveira, M., Giannuzzi, G., Fish, R.J., Rosenfeld, J.A., Petit, F., Soares, M.F., Kulikowski, L.D., Di-Battista, A., Zamariolli, M., Xia, F., Liehr, T., Kosyakova, N., Carvalheira, G., Parker, M., Seaby, E.G., Ennis, S., Gilbert, R.D., Hagelstrom, R.T., Cremona, M.L., Li, W.L., Malhotra, A., Chandrasekhar, A., Perry, D.L., Taft, R.J., McCarrier, J., Basel, D.G., Andrieux, J., Stumpp, T., Antunes, F., Pereira, G.J., Neerman-Arbez, M., Meloni, V.A., Drummond-Borg, M., Melaragno, M.I., Reymond, A.

المصدر: Serveur académique Lausannois ; Human mutation, vol. 39, no. 2, pp. 281-291

مصطلحات موضوعية: psy, socio

العلاقة: urn:issn:1059-7794; 10670/1.guhxmd; https://serval.unil.ch/notice/serval:BIB_37F48FE8E1F9Test

الإتاحة: https://doi.org/10.1002/humu.23373Test
https://serval.unil.ch/notice/serval:BIB_37F48FE8E1F9Test