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Enhanced interpretation of newborn screening results without analyte cutoff values.
Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H,… See abstract for full author list ➔ Marquardt G, et al. Among authors: hwu wl. Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16. Genet Med. 2012. PMID: 22766634 Free article.
Cockayne syndrome in a family.
Chien YH, Chou HC, Hwu WL. Chien YH, et al. Among authors: hwu wl. Acta Paediatr Taiwan. 2002 Jan-Feb;43(1):46-9. Acta Paediatr Taiwan. 2002. PMID: 11890228
An infant with heart murmur and dysmorphic face.
Chien YH, Kuo PL, Hwu WL. Chien YH, et al. Among authors: hwu wl. Acta Paediatr Taiwan. 2002 Sep-Oct;43(5):241-3. Acta Paediatr Taiwan. 2002. PMID: 12607476 No abstract available.
410 results