-
1
-
-
79952157478
-
Molecular spectrum of alpha- and beta-globin gene mutations detected in the population of Guangxi Zhuang Autonomous Region, People's Republic of China
-
Zheng CG, Liu M, Du J, Chen K, Yang Y, et al. (2011) Molecular spectrum of alpha- and beta-globin gene mutations detected in the population of Guangxi Zhuang Autonomous Region, People's Republic of China. Hemoglobin 35: 28-39.
-
(2011)
Hemoglobin
, vol.35
, pp. 28-39
-
-
Zheng, C.G.1
Liu, M.2
Du, J.3
Chen, K.4
Yang, Y.5
-
2
-
-
84863654172
-
[Spectrum of gene deletion in 471 children with alpha-thalassemia]
-
Lin YH, Fan L, Zhang Z, Pan ZW, Song CL, (2012) [Spectrum of gene deletion in 471 children with alpha-thalassemia]. Zhongguo Dang Dai Er Ke Za Zhi 14: 264-266.
-
(2012)
Zhongguo Dang Dai Er Ke Za Zhi
, vol.14
, pp. 264-266
-
-
Lin, Y.H.1
Fan, L.2
Zhang, Z.3
Pan, Z.W.4
Song, C.L.5
-
3
-
-
43949110285
-
Individual risk of fetal loss following routine second trimester amniocentesis: a controlled study of 20,460 cases
-
Kozlowski P, Knippel A, Stressig R, (2008) Individual risk of fetal loss following routine second trimester amniocentesis: a controlled study of 20,460 cases. Ultraschall Med 29: 165-172.
-
(2008)
Ultraschall Med
, vol.29
, pp. 165-172
-
-
Kozlowski, P.1
Knippel, A.2
Stressig, R.3
-
4
-
-
0342618532
-
Presence of fetal DNA in maternal plasma and serum
-
Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, et al. (1997) Presence of fetal DNA in maternal plasma and serum. Lancet 350: 485-487.
-
(1997)
Lancet
, vol.350
, pp. 485-487
-
-
Lo, Y.M.1
Corbetta, N.2
Chamberlain, P.F.3
Rai, V.4
Sargent, I.L.5
-
5
-
-
0347898005
-
Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis
-
Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, et al. (1998) Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 62: 768-775.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 768-775
-
-
Lo, Y.M.1
Tein, M.S.2
Lau, T.K.3
Haines, C.J.4
Leung, T.N.5
-
6
-
-
84864408781
-
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
-
Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, et al. (2012) Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 207: 137 e131-138.
-
(2012)
Am J Obstet Gynecol
, vol.207
, Issue.137
, pp. 131-138
-
-
Norton, M.E.1
Brar, H.2
Weiss, J.3
Karimi, A.4
Laurent, L.C.5
-
7
-
-
84857868297
-
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
-
Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, et al. (2012) DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 14: 296-305.
-
(2012)
Genet Med
, vol.14
, pp. 296-305
-
-
Palomaki, G.E.1
Deciu, C.2
Kloza, E.M.3
Lambert-Messerlian, G.M.4
Haddow, J.E.5
-
8
-
-
78650207098
-
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus
-
Lo YM, Chan KC, Sun H, Chen EZ, Jiang P, et al. (2010) Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2: 61ra91.
-
(2010)
Sci Transl Med
, vol.2
-
-
Lo, Y.M.1
Chan, K.C.2
Sun, H.3
Chen, E.Z.4
Jiang, P.5
-
9
-
-
84861553409
-
Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA
-
Liao GJ, Chan KC, Jiang P, Sun H, Leung TY, et al. (2012) Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA. PLoS One 7: e38154.
-
(2012)
PLoS One
, vol.7
-
-
Liao, G.J.1
Chan, K.C.2
Jiang, P.3
Sun, H.4
Leung, T.Y.5
-
10
-
-
84866977090
-
Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia
-
Lam KW, Jiang P, Liao GJ, Chan KC, Leung TY, et al. (2012) Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to beta-thalassemia. Clin Chem 58: 1467-1475.
-
(2012)
Clin Chem
, vol.58
, pp. 1467-1475
-
-
Lam, K.W.1
Jiang, P.2
Liao, G.J.3
Chan, K.C.4
Leung, T.Y.5
-
11
-
-
84865591846
-
A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers
-
Quail MA, Smith M, Coupland P, Otto TD, Harris SR, et al. (2012) A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers. BMC Genomics 13: 341.
-
(2012)
BMC Genomics
, vol.13
, pp. 341
-
-
Quail, M.A.1
Smith, M.2
Coupland, P.3
Otto, T.D.4
Harris, S.R.5
-
12
-
-
84856484968
-
Counting absolute numbers of molecules using unique molecular identifiers
-
Kivioja T, Vaharautio A, Karlsson K, Bonke M, Enge M, et al. (2012) Counting absolute numbers of molecules using unique molecular identifiers. Nat Methods 9: 72-74.
-
(2012)
Nat Methods
, vol.9
, pp. 72-74
-
-
Kivioja, T.1
Vaharautio, A.2
Karlsson, K.3
Bonke, M.4
Enge, M.5
-
13
-
-
84855295457
-
Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform
-
Kircher M, Sawyer S, Meyer M, (2012) Double indexing overcomes inaccuracies in multiplex sequencing on the Illumina platform. Nucleic Acids Res 40: e3.
-
(2012)
Nucleic Acids Res
, vol.40
-
-
Kircher, M.1
Sawyer, S.2
Meyer, M.3
-
14
-
-
84859363202
-
Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing
-
Lau TK, Chen F, Pan X, Pooh RK, Jiang F, et al. (2012) Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J Matern Fetal Neonatal Med 25: 1370-1374.
-
(2012)
J Matern Fetal Neonatal Med
, vol.25
, pp. 1370-1374
-
-
Lau, T.K.1
Chen, F.2
Pan, X.3
Pooh, R.K.4
Jiang, F.5
-
15
-
-
67650711615
-
SOAP2: an improved ultrafast tool for short read alignment
-
Li R, Yu C, Li Y, Lam TW, Yiu SM, et al. (2009) SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics 25: 1966-1967.
-
(2009)
Bioinformatics
, vol.25
, pp. 1966-1967
-
-
Li, R.1
Yu, C.2
Li, Y.3
Lam, T.W.4
Yiu, S.M.5
|