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Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MAJH, Kuijjer ML, Oosting J, Cleton-Jansen A-M, van Oosterwijk JG, Verbeke SLJ, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom L-G, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JVMG. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet 2011;43(12):1256-61.
Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MAJH, Kuijjer ML, Oosting J, Cleton-Jansen A-M, van Oosterwijk JG, Verbeke SLJ, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom L-G, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JVMG. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet 2011;43(12):1256-61.
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp M-C, Alessi M-C, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux M-F, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35(9):1033-45.
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp M-C, Alessi M-C, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux M-F, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35(9):1033-45.
Pascolo L, Zabucchi G, Gianoncelli A, Kourousias G, Trevisan E, Pascotto E, Casarsa C, Ryan C, Lucattelli M, Lungarella G, Cavarra E, Bartalesi B, Zweyer M, Cammisuli F, Melato M, Borelli V. Synchrotron X-ray microscopy reveals early calcium and iron interaction with crocidolite fibers in the lung of exposed mice. Toxicol Lett 2016;241:111-20.
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Alkowari MK, Vozzi D, Bhagat S, Krishnamoorthy N, Morgan A, Hayder Y, Logendra B, Najjar N, Gandin I, Gasparini P, Badii R, Girotto G, Abdulhadi K. Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families. Mutat Res 2017;800-802:29-36.
Poropat F, Cozzi G, Magnolato A, Monasta L, Borrometi F, Krauss B, Ventura A, Barbi E. Teaching pain recognition through art: the Ramsay-Caravaggio sedation scale. Ital J Pediatr 2018;44(1):20.
Hasija R, Pistorio A, Ravelli A, Demirkaya E, Khubchandani R, Guseinova D, Malattia C, Canhao H, Harel L, Foell D, Wouters C, De Cunto C, Huemer C, Kimura Y, Mangge H, Minetti C, Nordal EBerit, Philippet P, Garozzo R, Martini A, Ruperto N. Therapeutic approaches in the treatment of juvenile dermatomyositis in patients with recent-onset disease and in those experiencing disease flare: an international multicenter PRINTO study. Arthritis Rheum 2011;63(10):3142-52.
Hasija R, Pistorio A, Ravelli A, Demirkaya E, Khubchandani R, Guseinova D, Malattia C, Canhao H, Harel L, Foell D, Wouters C, De Cunto C, Huemer C, Kimura Y, Mangge H, Minetti C, Nordal EBerit, Philippet P, Garozzo R, Martini A, Ruperto N. Therapeutic approaches in the treatment of juvenile dermatomyositis in patients with recent-onset disease and in those experiencing disease flare: an international multicenter PRINTO study. Arthritis Rheum 2011;63(10):3142-52.
Freudenberg F, Wintergerst U, Roesen-Wolff A, Albert MH, Prell C, Strahm B, Koletzko S, Ehl S, Roos D, Tommasini A, Ventura A, Belohradsky BH, Seger R, Roesler J, Güngör T. Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease. J Allergy Clin Immunol 2010;125(4):943-946.e1.
Elks CE, Perry JRB, Sulem P, Chasman DI, Franceschini N, He C, Lunetta KL, Visser JA, Byrne EM, Cousminer DL, Gudbjartsson DF, Esko T, Feenstra B, Hottenga J-J, Koller DL, Kutalik Z, Lin P, Mangino M, Marongiu M, McArdle PF, Smith AV, Stolk L, van Wingerden SH, Zhao JHua, Albrecht E, Corre T, Ingelsson E, Hayward C, Magnusson PKE, Smith EN, Ulivi S, Warrington NM, Zgaga L, Alavere H, Amin N, Aspelund T, Bandinelli S, Barroso I, Berenson GS, Bergmann S, Blackburn H, Boerwinkle E, Buring JE, Busonero F, Campbell H, Chanock SJ, Chen W, Cornelis MC, Couper D, Coviello AD, d'Adamo P, de Faire U, de Geus EJC, Deloukas P, Döring A, Smith GDavey, Easton DF, Eiriksdottir G, Emilsson V, Eriksson J, Ferrucci L, Folsom AR, Foroud T, Garcia M, Gasparini P, Geller F, Gieger C, Gudnason V, Hall P, Hankinson SE, Ferreli L, Heath AC, Hernandez DG, Hofman A, Hu FB, Illig T, Järvelin M-R, Johnson AD, Karasik D, Khaw K-T, Kiel DP, Kilpeläinen TO, Kolcic I, Kraft P, Launer LJ, Laven JSE, Li S, Liu J, Levy D, Martin NG, McArdle WL, Melbye M, Mooser V, Murray JC, Murray SS, Nalls MA, Navarro P, Nelis M, Ness AR, Northstone K, Oostra BA, Peacock M, Palmer LJ, Palotie A, Paré G, Parker AN, Pedersen NL, Peltonen L, Pennell CE, Pharoah P, Polasek O, Plump AS, Pouta A, Porcu E, Rafnar T, Rice JP, Ring SM, Rivadeneira F, Rudan I, Sala C, Salomaa V, Sanna S, Schlessinger D, Schork NJ, Scuteri A, Segrè AV, Shuldiner AR, Soranzo N, Sovio U, Srinivasan SR, Strachan DP, Tammesoo M-L, Tikkanen E, Toniolo D, Tsui K, Tryggvadottir L, Tyrer J, Uda M, van Dam RM, van Meurs JBJ, Vollenweider P, Waeber G, Wareham NJ, Waterworth DM, Weedon MN, H Wichmann E, Willemsen G, Wilson JF, Wright AF, Young L, Zhai G, Zhuang WVivian, Bierut LJ, Boomsma DI, Boyd HA, Crisponi L, Demerath EW, van Duijn CM, Econs MJ, Harris TB, Hunter DJ, Loos RJF, Metspalu A, Montgomery GW, Ridker PM, Spector TD, Streeten EA, Stefansson K, Thorsteinsdottir U, Uitterlinden AG, Widen E, Murabito JM, Ong KK, Murray A. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 2010;42(12):1077-85.
Elks CE, Perry JRB, Sulem P, Chasman DI, Franceschini N, He C, Lunetta KL, Visser JA, Byrne EM, Cousminer DL, Gudbjartsson DF, Esko T, Feenstra B, Hottenga J-J, Koller DL, Kutalik Z, Lin P, Mangino M, Marongiu M, McArdle PF, Smith AV, Stolk L, van Wingerden SH, Zhao JHua, Albrecht E, Corre T, Ingelsson E, Hayward C, Magnusson PKE, Smith EN, Ulivi S, Warrington NM, Zgaga L, Alavere H, Amin N, Aspelund T, Bandinelli S, Barroso I, Berenson GS, Bergmann S, Blackburn H, Boerwinkle E, Buring JE, Busonero F, Campbell H, Chanock SJ, Chen W, Cornelis MC, Couper D, Coviello AD, d'Adamo P, de Faire U, de Geus EJC, Deloukas P, Döring A, Smith GDavey, Easton DF, Eiriksdottir G, Emilsson V, Eriksson J, Ferrucci L, Folsom AR, Foroud T, Garcia M, Gasparini P, Geller F, Gieger C, Gudnason V, Hall P, Hankinson SE, Ferreli L, Heath AC, Hernandez DG, Hofman A, Hu FB, Illig T, Järvelin M-R, Johnson AD, Karasik D, Khaw K-T, Kiel DP, Kilpeläinen TO, Kolcic I, Kraft P, Launer LJ, Laven JSE, Li S, Liu J, Levy D, Martin NG, McArdle WL, Melbye M, Mooser V, Murray JC, Murray SS, Nalls MA, Navarro P, Nelis M, Ness AR, Northstone K, Oostra BA, Peacock M, Palmer LJ, Palotie A, Paré G, Parker AN, Pedersen NL, Peltonen L, Pennell CE, Pharoah P, Polasek O, Plump AS, Pouta A, Porcu E, Rafnar T, Rice JP, Ring SM, Rivadeneira F, Rudan I, Sala C, Salomaa V, Sanna S, Schlessinger D, Schork NJ, Scuteri A, Segrè AV, Shuldiner AR, Soranzo N, Sovio U, Srinivasan SR, Strachan DP, Tammesoo M-L, Tikkanen E, Toniolo D, Tsui K, Tryggvadottir L, Tyrer J, Uda M, van Dam RM, van Meurs JBJ, Vollenweider P, Waeber G, Wareham NJ, Waterworth DM, Weedon MN, H Wichmann E, Willemsen G, Wilson JF, Wright AF, Young L, Zhai G, Zhuang WVivian, Bierut LJ, Boomsma DI, Boyd HA, Crisponi L, Demerath EW, van Duijn CM, Econs MJ, Harris TB, Hunter DJ, Loos RJF, Metspalu A, Montgomery GW, Ridker PM, Spector TD, Streeten EA, Stefansson K, Thorsteinsdottir U, Uitterlinden AG, Widen E, Murabito JM, Ong KK, Murray A. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 2010;42(12):1077-85.

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