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2012
Glembotsky AC, Marta RF, Pecci A, De Rocco D, Gnan C, Espasandin YR, Goette NP, Negro F, Noris P, Savoia A, Balduini CL, Molinas FC, Heller PG. International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country. J Thromb Haemost 2012;10(8):1653-61.
Stolk L, Perry JRB, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, Byrne EM, Ernst F, Esko T, Franceschini N, Gudbjartsson DF, Hottenga J-J, Kraft P, McArdle PF, Porcu E, Shin S-Y, Smith AV, van Wingerden S, Zhai G, Zhuang WV, Albrecht E, Alizadeh BZ, Aspelund T, Bandinelli S, Lauc LBarac, Beckmann JS, Boban M, Boerwinkle E, Broekmans FJ, Burri A, Campbell H, Chanock SJ, Chen C, Cornelis MC, Corre T, Coviello AD, d'Adamo P, Davies G, de Faire U, de Geus EJC, Deary IJ, Dedoussis GVZ, Deloukas P, Ebrahim S, Eiriksdottir G, Emilsson V, Eriksson JG, Fauser BCJM, Ferreli L, Ferrucci L, Fischer K, Folsom AR, Garcia ME, Gasparini P, Gieger C, Glazer N, Grobbee DE, Hall P, Haller T, Hankinson SE, Hass M, Hayward C, Heath AC, Hofman A, Ingelsson E, A Janssens CJW, Johnson AD, Karasik D, Kardia SLR, Keyzer J, Kiel DP, Kolcic I, Kutalik Z, Lahti J, Lai S, Laisk T, Laven JSE, Lawlor DA, Liu J, Lopez LM, Louwers YV, Magnusson PKE, Marongiu M, Martin NG, Klaric IMartinovic, Masciullo C, McKnight B, Medland SE, Melzer D, Mooser V, Navarro P, Newman AB, Nyholt DR, N Onland-Moret C, Palotie A, Paré G, Parker AN, Pedersen NL, Peeters PHM, Pistis G, Plump AS, Polasek O, Pop VJM, Psaty BM, Räikkönen K, Rehnberg E, Rotter JI, Rudan I, Sala C, Salumets A, Scuteri A, Singleton A, Smith JA, Snieder H, Soranzo N, Stacey SN, Starr JM, Stathopoulou MG, Stirrups K, Stolk RP, Styrkarsdottir U, Sun YV, Tenesa A, Thorand B, Toniolo D, Tryggvadottir L, Tsui K, Ulivi S, van Dam RM, van der Schouw YT, van Gils CH, van Nierop P, Vink JM, Visscher PM, Voorhuis M, Waeber G, Wallaschofski H, H Wichmann E, Widen E, van Gent CJMWijnan, Willemsen G, Wilson JF, Wolffenbuttel BHR, Wright AF, Yerges-Armstrong LM, Zemunik T, Zgaga L, M Zillikens C, Zygmunt M, Arnold AM, Boomsma DI, Buring JE, Crisponi L, Demerath EW, Gudnason V, Harris TB, Hu FB, Hunter DJ, Launer LJ, Metspalu A, Montgomery GW, Oostra BA, Ridker PM, Sanna S, Schlessinger D, Spector TD, Stefansson K, Streeten EA, Thorsteinsdottir U, Uda M, Uitterlinden AG, van Duijn CM, Völzke H, Murray A, Murabito JM, Visser JA, Lunetta KL. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012;44(3):260-8.
Stolk L, Perry JRB, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, Byrne EM, Ernst F, Esko T, Franceschini N, Gudbjartsson DF, Hottenga J-J, Kraft P, McArdle PF, Porcu E, Shin S-Y, Smith AV, van Wingerden S, Zhai G, Zhuang WV, Albrecht E, Alizadeh BZ, Aspelund T, Bandinelli S, Lauc LBarac, Beckmann JS, Boban M, Boerwinkle E, Broekmans FJ, Burri A, Campbell H, Chanock SJ, Chen C, Cornelis MC, Corre T, Coviello AD, d'Adamo P, Davies G, de Faire U, de Geus EJC, Deary IJ, Dedoussis GVZ, Deloukas P, Ebrahim S, Eiriksdottir G, Emilsson V, Eriksson JG, Fauser BCJM, Ferreli L, Ferrucci L, Fischer K, Folsom AR, Garcia ME, Gasparini P, Gieger C, Glazer N, Grobbee DE, Hall P, Haller T, Hankinson SE, Hass M, Hayward C, Heath AC, Hofman A, Ingelsson E, A Janssens CJW, Johnson AD, Karasik D, Kardia SLR, Keyzer J, Kiel DP, Kolcic I, Kutalik Z, Lahti J, Lai S, Laisk T, Laven JSE, Lawlor DA, Liu J, Lopez LM, Louwers YV, Magnusson PKE, Marongiu M, Martin NG, Klaric IMartinovic, Masciullo C, McKnight B, Medland SE, Melzer D, Mooser V, Navarro P, Newman AB, Nyholt DR, N Onland-Moret C, Palotie A, Paré G, Parker AN, Pedersen NL, Peeters PHM, Pistis G, Plump AS, Polasek O, Pop VJM, Psaty BM, Räikkönen K, Rehnberg E, Rotter JI, Rudan I, Sala C, Salumets A, Scuteri A, Singleton A, Smith JA, Snieder H, Soranzo N, Stacey SN, Starr JM, Stathopoulou MG, Stirrups K, Stolk RP, Styrkarsdottir U, Sun YV, Tenesa A, Thorand B, Toniolo D, Tryggvadottir L, Tsui K, Ulivi S, van Dam RM, van der Schouw YT, van Gils CH, van Nierop P, Vink JM, Visscher PM, Voorhuis M, Waeber G, Wallaschofski H, H Wichmann E, Widen E, van Gent CJMWijnan, Willemsen G, Wilson JF, Wolffenbuttel BHR, Wright AF, Yerges-Armstrong LM, Zemunik T, Zgaga L, M Zillikens C, Zygmunt M, Arnold AM, Boomsma DI, Buring JE, Crisponi L, Demerath EW, Gudnason V, Harris TB, Hu FB, Hunter DJ, Launer LJ, Metspalu A, Montgomery GW, Oostra BA, Ridker PM, Sanna S, Schlessinger D, Spector TD, Stefansson K, Streeten EA, Thorsteinsdottir U, Uda M, Uitterlinden AG, van Duijn CM, Völzke H, Murray A, Murabito JM, Visser JA, Lunetta KL. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012;44(3):260-8.
Stolk L, Perry JRB, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, Byrne EM, Ernst F, Esko T, Franceschini N, Gudbjartsson DF, Hottenga J-J, Kraft P, McArdle PF, Porcu E, Shin S-Y, Smith AV, van Wingerden S, Zhai G, Zhuang WV, Albrecht E, Alizadeh BZ, Aspelund T, Bandinelli S, Lauc LBarac, Beckmann JS, Boban M, Boerwinkle E, Broekmans FJ, Burri A, Campbell H, Chanock SJ, Chen C, Cornelis MC, Corre T, Coviello AD, d'Adamo P, Davies G, de Faire U, de Geus EJC, Deary IJ, Dedoussis GVZ, Deloukas P, Ebrahim S, Eiriksdottir G, Emilsson V, Eriksson JG, Fauser BCJM, Ferreli L, Ferrucci L, Fischer K, Folsom AR, Garcia ME, Gasparini P, Gieger C, Glazer N, Grobbee DE, Hall P, Haller T, Hankinson SE, Hass M, Hayward C, Heath AC, Hofman A, Ingelsson E, A Janssens CJW, Johnson AD, Karasik D, Kardia SLR, Keyzer J, Kiel DP, Kolcic I, Kutalik Z, Lahti J, Lai S, Laisk T, Laven JSE, Lawlor DA, Liu J, Lopez LM, Louwers YV, Magnusson PKE, Marongiu M, Martin NG, Klaric IMartinovic, Masciullo C, McKnight B, Medland SE, Melzer D, Mooser V, Navarro P, Newman AB, Nyholt DR, N Onland-Moret C, Palotie A, Paré G, Parker AN, Pedersen NL, Peeters PHM, Pistis G, Plump AS, Polasek O, Pop VJM, Psaty BM, Räikkönen K, Rehnberg E, Rotter JI, Rudan I, Sala C, Salumets A, Scuteri A, Singleton A, Smith JA, Snieder H, Soranzo N, Stacey SN, Starr JM, Stathopoulou MG, Stirrups K, Stolk RP, Styrkarsdottir U, Sun YV, Tenesa A, Thorand B, Toniolo D, Tryggvadottir L, Tsui K, Ulivi S, van Dam RM, van der Schouw YT, van Gils CH, van Nierop P, Vink JM, Visscher PM, Voorhuis M, Waeber G, Wallaschofski H, H Wichmann E, Widen E, van Gent CJMWijnan, Willemsen G, Wilson JF, Wolffenbuttel BHR, Wright AF, Yerges-Armstrong LM, Zemunik T, Zgaga L, M Zillikens C, Zygmunt M, Arnold AM, Boomsma DI, Buring JE, Crisponi L, Demerath EW, Gudnason V, Harris TB, Hu FB, Hunter DJ, Launer LJ, Metspalu A, Montgomery GW, Oostra BA, Ridker PM, Sanna S, Schlessinger D, Spector TD, Stefansson K, Streeten EA, Thorsteinsdottir U, Uda M, Uitterlinden AG, van Duijn CM, Völzke H, Murray A, Murabito JM, Visser JA, Lunetta KL. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012;44(3):260-8.
Stolk L, Perry JRB, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, Byrne EM, Ernst F, Esko T, Franceschini N, Gudbjartsson DF, Hottenga J-J, Kraft P, McArdle PF, Porcu E, Shin S-Y, Smith AV, van Wingerden S, Zhai G, Zhuang WV, Albrecht E, Alizadeh BZ, Aspelund T, Bandinelli S, Lauc LBarac, Beckmann JS, Boban M, Boerwinkle E, Broekmans FJ, Burri A, Campbell H, Chanock SJ, Chen C, Cornelis MC, Corre T, Coviello AD, d'Adamo P, Davies G, de Faire U, de Geus EJC, Deary IJ, Dedoussis GVZ, Deloukas P, Ebrahim S, Eiriksdottir G, Emilsson V, Eriksson JG, Fauser BCJM, Ferreli L, Ferrucci L, Fischer K, Folsom AR, Garcia ME, Gasparini P, Gieger C, Glazer N, Grobbee DE, Hall P, Haller T, Hankinson SE, Hass M, Hayward C, Heath AC, Hofman A, Ingelsson E, A Janssens CJW, Johnson AD, Karasik D, Kardia SLR, Keyzer J, Kiel DP, Kolcic I, Kutalik Z, Lahti J, Lai S, Laisk T, Laven JSE, Lawlor DA, Liu J, Lopez LM, Louwers YV, Magnusson PKE, Marongiu M, Martin NG, Klaric IMartinovic, Masciullo C, McKnight B, Medland SE, Melzer D, Mooser V, Navarro P, Newman AB, Nyholt DR, N Onland-Moret C, Palotie A, Paré G, Parker AN, Pedersen NL, Peeters PHM, Pistis G, Plump AS, Polasek O, Pop VJM, Psaty BM, Räikkönen K, Rehnberg E, Rotter JI, Rudan I, Sala C, Salumets A, Scuteri A, Singleton A, Smith JA, Snieder H, Soranzo N, Stacey SN, Starr JM, Stathopoulou MG, Stirrups K, Stolk RP, Styrkarsdottir U, Sun YV, Tenesa A, Thorand B, Toniolo D, Tryggvadottir L, Tsui K, Ulivi S, van Dam RM, van der Schouw YT, van Gils CH, van Nierop P, Vink JM, Visscher PM, Voorhuis M, Waeber G, Wallaschofski H, H Wichmann E, Widen E, van Gent CJMWijnan, Willemsen G, Wilson JF, Wolffenbuttel BHR, Wright AF, Yerges-Armstrong LM, Zemunik T, Zgaga L, M Zillikens C, Zygmunt M, Arnold AM, Boomsma DI, Buring JE, Crisponi L, Demerath EW, Gudnason V, Harris TB, Hu FB, Hunter DJ, Launer LJ, Metspalu A, Montgomery GW, Oostra BA, Ridker PM, Sanna S, Schlessinger D, Spector TD, Stefansson K, Streeten EA, Thorsteinsdottir U, Uda M, Uitterlinden AG, van Duijn CM, Völzke H, Murray A, Murabito JM, Visser JA, Lunetta KL. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012;44(3):260-8.
Stolk L, Perry JRB, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, Byrne EM, Ernst F, Esko T, Franceschini N, Gudbjartsson DF, Hottenga J-J, Kraft P, McArdle PF, Porcu E, Shin S-Y, Smith AV, van Wingerden S, Zhai G, Zhuang WV, Albrecht E, Alizadeh BZ, Aspelund T, Bandinelli S, Lauc LBarac, Beckmann JS, Boban M, Boerwinkle E, Broekmans FJ, Burri A, Campbell H, Chanock SJ, Chen C, Cornelis MC, Corre T, Coviello AD, d'Adamo P, Davies G, de Faire U, de Geus EJC, Deary IJ, Dedoussis GVZ, Deloukas P, Ebrahim S, Eiriksdottir G, Emilsson V, Eriksson JG, Fauser BCJM, Ferreli L, Ferrucci L, Fischer K, Folsom AR, Garcia ME, Gasparini P, Gieger C, Glazer N, Grobbee DE, Hall P, Haller T, Hankinson SE, Hass M, Hayward C, Heath AC, Hofman A, Ingelsson E, A Janssens CJW, Johnson AD, Karasik D, Kardia SLR, Keyzer J, Kiel DP, Kolcic I, Kutalik Z, Lahti J, Lai S, Laisk T, Laven JSE, Lawlor DA, Liu J, Lopez LM, Louwers YV, Magnusson PKE, Marongiu M, Martin NG, Klaric IMartinovic, Masciullo C, McKnight B, Medland SE, Melzer D, Mooser V, Navarro P, Newman AB, Nyholt DR, N Onland-Moret C, Palotie A, Paré G, Parker AN, Pedersen NL, Peeters PHM, Pistis G, Plump AS, Polasek O, Pop VJM, Psaty BM, Räikkönen K, Rehnberg E, Rotter JI, Rudan I, Sala C, Salumets A, Scuteri A, Singleton A, Smith JA, Snieder H, Soranzo N, Stacey SN, Starr JM, Stathopoulou MG, Stirrups K, Stolk RP, Styrkarsdottir U, Sun YV, Tenesa A, Thorand B, Toniolo D, Tryggvadottir L, Tsui K, Ulivi S, van Dam RM, van der Schouw YT, van Gils CH, van Nierop P, Vink JM, Visscher PM, Voorhuis M, Waeber G, Wallaschofski H, H Wichmann E, Widen E, van Gent CJMWijnan, Willemsen G, Wilson JF, Wolffenbuttel BHR, Wright AF, Yerges-Armstrong LM, Zemunik T, Zgaga L, M Zillikens C, Zygmunt M, Arnold AM, Boomsma DI, Buring JE, Crisponi L, Demerath EW, Gudnason V, Harris TB, Hu FB, Hunter DJ, Launer LJ, Metspalu A, Montgomery GW, Oostra BA, Ridker PM, Sanna S, Schlessinger D, Spector TD, Stefansson K, Streeten EA, Thorsteinsdottir U, Uda M, Uitterlinden AG, van Duijn CM, Völzke H, Murray A, Murabito JM, Visser JA, Lunetta KL. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012;44(3):260-8.
Stolk L, Perry JRB, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, Byrne EM, Ernst F, Esko T, Franceschini N, Gudbjartsson DF, Hottenga J-J, Kraft P, McArdle PF, Porcu E, Shin S-Y, Smith AV, van Wingerden S, Zhai G, Zhuang WV, Albrecht E, Alizadeh BZ, Aspelund T, Bandinelli S, Lauc LBarac, Beckmann JS, Boban M, Boerwinkle E, Broekmans FJ, Burri A, Campbell H, Chanock SJ, Chen C, Cornelis MC, Corre T, Coviello AD, d'Adamo P, Davies G, de Faire U, de Geus EJC, Deary IJ, Dedoussis GVZ, Deloukas P, Ebrahim S, Eiriksdottir G, Emilsson V, Eriksson JG, Fauser BCJM, Ferreli L, Ferrucci L, Fischer K, Folsom AR, Garcia ME, Gasparini P, Gieger C, Glazer N, Grobbee DE, Hall P, Haller T, Hankinson SE, Hass M, Hayward C, Heath AC, Hofman A, Ingelsson E, A Janssens CJW, Johnson AD, Karasik D, Kardia SLR, Keyzer J, Kiel DP, Kolcic I, Kutalik Z, Lahti J, Lai S, Laisk T, Laven JSE, Lawlor DA, Liu J, Lopez LM, Louwers YV, Magnusson PKE, Marongiu M, Martin NG, Klaric IMartinovic, Masciullo C, McKnight B, Medland SE, Melzer D, Mooser V, Navarro P, Newman AB, Nyholt DR, N Onland-Moret C, Palotie A, Paré G, Parker AN, Pedersen NL, Peeters PHM, Pistis G, Plump AS, Polasek O, Pop VJM, Psaty BM, Räikkönen K, Rehnberg E, Rotter JI, Rudan I, Sala C, Salumets A, Scuteri A, Singleton A, Smith JA, Snieder H, Soranzo N, Stacey SN, Starr JM, Stathopoulou MG, Stirrups K, Stolk RP, Styrkarsdottir U, Sun YV, Tenesa A, Thorand B, Toniolo D, Tryggvadottir L, Tsui K, Ulivi S, van Dam RM, van der Schouw YT, van Gils CH, van Nierop P, Vink JM, Visscher PM, Voorhuis M, Waeber G, Wallaschofski H, H Wichmann E, Widen E, van Gent CJMWijnan, Willemsen G, Wilson JF, Wolffenbuttel BHR, Wright AF, Yerges-Armstrong LM, Zemunik T, Zgaga L, M Zillikens C, Zygmunt M, Arnold AM, Boomsma DI, Buring JE, Crisponi L, Demerath EW, Gudnason V, Harris TB, Hu FB, Hunter DJ, Launer LJ, Metspalu A, Montgomery GW, Oostra BA, Ridker PM, Sanna S, Schlessinger D, Spector TD, Stefansson K, Streeten EA, Thorsteinsdottir U, Uda M, Uitterlinden AG, van Duijn CM, Völzke H, Murray A, Murabito JM, Visser JA, Lunetta KL. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012;44(3):260-8.
Economou M, Batzios SP, Pecci A, Printza N, Savoia A, Barozzi S, Theodoridou S, Teli A, Psillas G, Zafeiriou DI. MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation. J Pediatr Hematol Oncol 2012;34(6):412-5.
de Vries E. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol 2012;167(1):108-19.
Monasta L, Erenbourg A, Restaino S, Lutje V, Ronfani L. Review of the scientific literature on the health of the Roma and Sinti in Italy. Ethn Dis 2012;22(3):367-71.
Barbiero C, Lonciari I, Montico M, Monasta L, Penge R, Vio C, Tressoldi PEmanuele, Ferluga V, Bigoni A, Tullio A, Carrozzi M, Ronfani L. The submerged dyslexia iceberg: how many school children are not diagnosed? Results from an Italian study. PLoS One 2012;7(10):e48082.
Tancini B, Magini A, Bortot B, Polchi A, Urbanelli L, Sonnino S, Severini GMaria, Emiliani C. Β-hexosaminidase over-expression affects lysosomal glycohydrolases expression and glycosphingolipid metabolism in mammalian cells. Mol Cell Biochem 2012;363(1-2):109-18.

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