Instituto Nacional de Saúde Dr. Ricardo Jorge
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 Artigos Científicos

 
 
Rocha H, Ferreira R, Carvalho J, Vitorino R, Santa C, Lopes L, Gregersen N, Vilarinho L, Amado F.
J Proteomics. 2011 May 7. [Epub ahead of print]
Genética Humana / Doenças Genéticas
Rocha H, Ferreira R, Carvalho J, Vitorino R, Santa C, Lopes L, Gregersen N, Vilarinho L, Amado F.
J Proteomics. 2011 May 7. [Epub ahead of print]
Genética Humana / Doenças Genéticas
Betsalel OT, Rosenberg EH, Almeida LS, Kleefstra T, Schwartz CE, Valayannopoulos V, Abdul-Rahman O, Poplawski N, Vilarinho L, Wolf P, den Dunnen JT, Jakobs C, Salomons GS.
Eur J Hum Genet. 2011 Jan;19(1):56-63. Epub 2010 Aug 18
Genética Humana / Doenças Genéticas
McHugh DM, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra-González I, Ingham CA, Ivanova M, Jacox WB, John C, Johnson JP, Jónsson JJ, Karg E, Kasper D, Klopper B, Katakouzinos D, Khneisser I, Knoll D, Kobayashi H, Koneski R, Kozich V, Kouapei R, Kohlmueller D, Kremensky I, la Marca G, Lavochkin M, Lee SY, Lehotay DC, Lemes A, Lepage J, Lesko B, Lewis B, Lim C, Linard S, Lindner M, Lloyd-Puryear MA, Lorey F, Loukas YL, Luedtke J, Maffitt N, Magee JF, Manning A, Manos S, Marie S, Hadachi SM, Marquardt G, Martin SJ, Matern D, Mayfield Gibson SK, Mayne P, McCallister TD, McCann M, McClure J, McGill JJ, McKeever CD, McNeilly B, Morrissey MA, Moutsatsou P, Mulcahy EA, Nikoloudis D, Norgaard-Pedersen B, Oglesbee D, Oltarzewski M, Ombrone D, Ojodu J, Papakonstantinou V, Reoyo SP, Park HD, Pasquali M, Pasquini E, Patel P, Pass KA, Peterson C, Pettersen RD, Pitt JJ, Poh S, Pollak A, Porter C, Poston PA, Price RW, Queijo C, Quesada J, Randell E, Ranieri E, Raymond K, Reddic JE, Reuben A, Ricciardi C, Rinaldo P, Rivera JD, Roberts A, Rocha H, Roche G, Greenberg CR, Mellado JM, Juan-Fita MJ, Ruiz C, Ruoppolo M, Rutledge SL, Ryu E, Saban C, Sahai I, García-Blanco MI, Santiago-Borrero P, Schenone A, Schoos R, Schweitzer B, Scott P, Seashore MR, Seeterlin MA, Sesser DE, Sevier DW, Shone SM, Sinclair G, Skrinska VA, Stanley EL, Strovel ET, Jones AL, Sunny S, Takats Z, Tanyalcin T, Teofoli F, Thompson JR, Tomashitis K, Domingos MT, Torres J, Torres R, Tortorelli S, Turi S, Turner K, Tzanakos N, Valiente AG, Vallance H, Vela-Amieva M, Vilarinho L, von Döbeln U, Vincent MF, Vorster BC, Watson MS, Webster D, Weiss S, Wilcken B, Wiley V, Williams SK, Willis SA, Woontner M, Wright K, Yahyaoui R, Yamaguchi S, Yssel M, Zakowicz WM.
Genet Med. 2011 Mar;13(3):230-54
Genética Humana / Doenças Genéticas
Martins R, Silva B, Proença D, Faustino P
PLOS One, 2011, 6(3):e17542. doi:10.1371/journal.pone.0017542
Genética Humana / Doenças Genéticas
Cozar M, Urreizti R, Vilarinho L, Grosso C, de Kremer RD, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg D, Balcells S.
Hum Mutat. 2011 Apr 21. doi: 10.1002/humu.21514. [Epub ahead of print]
Genética Humana / Doenças Genéticas
Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyre H, Rizzoti K, McAninch D, Gonçalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P.
J Clin Invest, 2011, 121(1):328-41. doi: 10.1172/JCI42580
Genética Humana / Doenças Genéticas
Nogueira C, Carrozzo R, Vilarinho L, Santorelli FM.
J Child Neurol. 2011 May 13. [Epub ahead of print]
Genética Humana / Doenças Genéticas
Coutinho MF, Lacerda L, Macedo-Ribeiro S, Baptista E, Ribeiro H, Prata MJ, Alves S.
Clin Genet. 2011 Jan 10. doi: 10.1111/j.1399-0004.2011.01625.x
Genética Humana / Doenças Genéticas
Gomes Martins E, Santos Silva E, Vilarinho S, Saudubray JM, Vilarinho L.
J Inherit Metab Dis. 2011 Jan 13. [Epub ahead of print]
Genética Humana / Doenças Genéticas
Ferreira M, Torraco A, Rizza T, Fattori F, Meschini MC, Castana C, Go NE, Nargang FE, Duarte M, Piemonte F, Dionisi-Vici C, Videira A, Vilarinho L, Santorelli FM, Carrozzo R, Bertini E.
. 2011 Feb;12(1):9-17. Epub 2011 Jan 4
Genética Humana / Doenças Genéticas
Ferreira M, Evangelista T, Almeida LS, Martins J, Macario MC, Martins E, Moleirinho A, Azevedo L, Vilarinho L, Santorelli FM
Neuromuscul Disord. 2011 May 6. [Epub ahead of print]
Genética Humana / Doenças Genéticas
Martins E, Cardoso ML, Rodrigues E, Barbot C, Ramos A, Bennett MJ, Teles EL, Vilarinho L.
J Inherit Metab Dis. 2011 Feb 24. [Epub ahead of print]
Genética Humana / Doenças Genéticas
Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN , Clark B, Costa FC, Faustino P , Fedosyuk H, Felice AE, Francina A, Galanello R, Gallivan MVE, Georgitsi M , Gibbons RJ , Giordano PC, Harteveld CL, Hoyer JD, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis MN, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B , Chui DHK , Wajcman H, Hardison RC, and Patrinos GP.
Nature Genetics, 2011, 43(4):295-301
Genética Humana / Doenças Genéticas