부산대학교 도서관

Marom, R; Burrage, LC; Venditti, R; Clement, A; Blanco-Sanchez, B; Jain, M; Scott, DA; Rosenfeld, JA; Sutton, VR; Shinawi, M; Mirzaa, G; DeVile, C; Roberts, R; Calder, AD; Allgrove, J; Grafe, I; Lanza, DG; Li, XH; Joeng, KS; Lee, YC; Song, IW; Sliepka, JM; Batkovskyte, D; Washington, M; Dawson, BC; Jin, ZX; Jiang, MM; Chen, S; Chen, YQ; Tran, AA; Emrick, LT; Murdock, DR; Hanchard, NA; Zapata, GE; Mehta, NR; Weis, MA; Scott, AA; Tremp, BA; Phillips, JB; Wegner, J; Taylor-Miller, T; Gibbs, RA; Muzny, DM; Jhangiani, SN; Hicks, J; Stottmann, RW; Dickinson, ME; Seavitt, JR; Heaney, JD; Eyre, DR; Westerfield, M; De Matteis, MA; Lee, B

American journal of human genetics. 108(9):1710-1724

Zhang, CF; Mazzeu, JF; Eisfeldt, J; Grochowski, CM; White, J; Akdemir, ZC; Jhangiani, SN; Muzny, DM; Gibbs, RA; Lindstrand, A; Lupski, JR; Sutton, VR; Carvalho, CMB

American journal of medical genetics. Part A. 185(12):3593-3600

Grochowski, CM; Bengtsson, JD; Du, H; Gandhi, M; Lun, MY; Mehaffey, MG; Park, K; Höps, W; Benito-Garagorri, E; Hasenfeld, P; Korbel, JO; Mahmoud, M; Paulin, LF; Jhangiani, SN; Muzny, DM; Fatih, JM; Gibbs, RA; Pendleton, M; Harrington, E; Juul, S; Lindstrand, A; Sedlazeck, FJ; Pehlivan, D; Lupski, JR; Carvalho, CMB

bioRxiv : the preprint server for biology.

Grochowski, CM; Bengtsson, JD; Du, H; Gandhi, M; Lun, MY; Mehaffey, MG; Park, K; Höps, W; Benito, E; Hasenfeld, P; Korbel, JO; Mahmoud, M; Paulin, LF; Jhangiani, SN; Hwang, JP; Bhamidipati, SV; Muzny, DM; Fatih, JM; Gibbs, RA; Pendleton, M; Harrington, E; Juul, S; Lindstrand, A; Sedlazeck, FJ; Pehlivan, D; Lupski, JR; Carvalho, CMB

Cell genomics. 4(7):100590

Lam, MT; Coppola, S; Krumbach, OHF; Prencipe, G; Insalaco, A; Cifaldi, C; Brigida, I; Zara, E; Scala, S; Di Cesare, S; Martinelli, S; Di Rocco, M; Pascarella, A; Niceta, M; Pantaleoni, F; Ciolfi, A; Netter, P; Carisey, AF; Diehl, M; Akbarzadeh, M; Conti, F; Merli, P; Pastore, A; Mortera, SL; Camerini, S; Farina, L; Buchholzer, M; Pannone, L; Cao, TN; Coban-Akdemir, ZH; Jhangiani, SN; Muzny, DM; Gibbs, RA; Basso-Ricci, L; Chiriaco, M; Dvorsky, R; Putignani, L; Carsetti, R; Janning, P; Stray-Pedersen, A; Erichsen, HC; Horne, A; Bryceson, YT; Torralba-Raga, L; Ramme, K; Rosti, V; Bracaglia, C; Messia, V; Palma, P; Finocchi, A; Locatelli, F; Chinn, IK; Lupski, JR; Mace, EM; Cancrini, C; Aiuti, A; Ahmadian, MR; Orange, JS; De Benedetti, F; Tartaglia, M

The Journal of experimental medicine. 216(12):2778-2799

Barbier, Damien (CH-LSNP-ILP) AMS Author Profile; Cugliandolo, Leticia F. (F-SORBU-TPE) AMS Author Profile; Lozano, Gustavo S. (RA-UBA-P) AMS Author Profile; Nessi, Nicolás (RA-CONIC5-IP) AMS Author Profile

SciPost Physics (SciPost Phys.) (20220101), 13, no. 3, Paper No 048, 75 pp. eISSN: 2542-4653.

Faust, Saul N ; Haynes, Richard ; Jones, Christine E; Staplin, Natalie; Whittaker, Elizabeth; Jaki, Thomas; Juszczak, Ed; Spata, Enti; Wan, Mandy; Bamford, Alasdair; Dimitri, Paul; Finn, Adam; Furness, John; Ramanan, Athimalaipet V; Gale, Christopher; Cathie, Katrina; Drysdale, Simon; Bernatoniene, Jolanta; Murray, Clare; Roehr, Charles C; Fleming, Paul; Riordan, Andrew; Bandi, Srini; Jyothish, Deepthi; Evans, Jennifer; Emonts, Marieke; Kelly, Dominic; Pathan, Nazima; Davies, Patrick; Hague, Rosie; Pollock, Louisa; Semple, Malcolm G; Peto, Leon; Baillie, J Kenneth; Buch, Maya; Jeffery, Katie; Knight, Marian; Lim, Wei Shen; Montgomery, Alan; Mukherjee, Aparna; Mumford, Andrew; Rowan, Kathryn; Thwaites, Guy; Mafham, Marion; Emberson, Jonathan; Landray, Martin J; Horby, Peter W; Chappell, Lucy; Day, Jeremy; Dung, DV; Quang, NN; Binh, Prof; Burhan, E; Alisjahbana, B; Koirala, J; Basnet, S; Kestelyn, E; Basnyat, B; Gyanwali, P; Hamers, RL; Sandercock, P; Darbyshire, J; DeMets, D; Fowler, 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