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1Academic Journal
المؤلفون: Zerella, JR, Homan, CC, Arts, P, Lin, X, Spinelli, SJ, Venugopal, P, Babic, M, Brautigan, PJ, Truong, L, Arriola-Martinez, LA, Moore, S, Hollins, R, Parker, WT, Nguyen, H, Kassahn, KS, Branford, S, Feurstein, SK, Larcher, L, Sicre De Fontbrune, F, Demirdas, S, de Munnik, S, Poirel, HA, Brichard, B, Mansour, S, Gordon, K, ERG Variants Research Network, Wlodarski, MW, Koppayi, AL, Dobbins, S, Mutsaers, PGNJ, Nichols, KE, Oak, N, DeMille, D, Mao, R, Crawford, A, McCarrier, J, Basel, D, Flores-Daboub, J, Drazer, MW, Phillips, K, Poplawski, NK, Birdsey, GM, Pirri, D, Ostergaard, P, Simons, A, Godley, LA, Ross, DM, Hiwase, DK, Soulier, J, Brown, AL, Carmichael, CL, Scott, HS, Hahn, CN
وصف الملف: application/pdf
Relation: https://openaccess.sgul.ac.uk/id/eprint/116598/1/ERG_manuscript_accepted%20version.pdf; https://openaccess.sgul.ac.uk/id/eprint/116598/6/ERG%20figures%20-%20accepted%20version.pdf; Zerella, JR; Homan, CC; Arts, P; Lin, X; Spinelli, SJ; Venugopal, P; Babic, M; Brautigan, PJ; Truong, L; Arriola-Martinez, LA; et al. Zerella, JR; Homan, CC; Arts, P; Lin, X; Spinelli, SJ; Venugopal, P; Babic, M; Brautigan, PJ; Truong, L; Arriola-Martinez, LA; Moore, S; Hollins, R; Parker, WT; Nguyen, H; Kassahn, KS; Branford, S; Feurstein, SK; Larcher, L; Sicre De Fontbrune, F; Demirdas, S; de Munnik, S; Poirel, HA; Brichard, B; Mansour, S; Gordon, K; ERG Variants Research Network; Wlodarski, MW; Koppayi, AL; Dobbins, S; Mutsaers, PGNJ; Nichols, KE; Oak, N; DeMille, D; Mao, R; Crawford, A; McCarrier, J; Basel, D; Flores-Daboub, J; Drazer, MW; Phillips, K; Poplawski, NK; Birdsey, GM; Pirri, D; Ostergaard, P; Simons, A; Godley, LA; Ross, DM; Hiwase, DK; Soulier, J; Brown, AL; Carmichael, CL; Scott, HS; Hahn, CN (2024) Germline ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. Blood. ISSN 1528-0020 https://doi.org/10.1182/blood.2024024607 SGUL Authors: Ostergaard, Pia
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2Conference
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
Relation: https://openaccess.sgul.ac.uk/id/eprint/116108/6/blood-73562-main.pdf; 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
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3Academic Journal
المؤلفون: Giangiobbe S., Caraffi S. G., Ivanovski I., Maini I., Pollazzon M., Rosato S., Trimarchi G., Lauriello A., Marinelli M., Nicoli D., Baldo C., Laurie S., Flores-Daboub J., Provenzano A., Andreucci E., Peluso F., Rizzo R., Stewart H., Lachlan K., Bayat A., Napoli M., Carboni G., Baker J., Mendel A., Piatelli G., Pantaleoni C., Mattina T., Prontera P., Mendelsohn N. J., Giglio S., Zuffardi O., Garavelli L.
المساهمون: Giangiobbe, S., Caraffi, S. G., Ivanovski, I., Maini, I., Pollazzon, M., Rosato, S., Trimarchi, G., Lauriello, A., Marinelli, M., Nicoli, D., Baldo, C., Laurie, S., Flores-Daboub, J., Provenzano, A., Andreucci, E., Peluso, F., Rizzo, R., Stewart, H., Lachlan, K., Bayat, A., Napoli, M., Carboni, G., Baker, J., Mendel, A., Piatelli, G., Pantaleoni, C., Mattina, T., Prontera, P., Mendelsohn, N. J., Giglio, S., Zuffardi, O., Garavelli, L.
مصطلحات موضوعية: cervical C2/C3 vertebral fusion, Chiari malformation, craniovertebral junction, KMT2A, small foramen magnum, Wiedemann–Steiner syndrome
Relation: info:eu-repo/semantics/altIdentifier/pmid/33043602; info:eu-repo/semantics/altIdentifier/wos/WOS:000578436300001; volume:182; issue:12; firstpage:2877; lastpage:2886; numberofpages:10; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11584/298830; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85092283098