-
1
-
-
34250675020
-
-
NCCLS document MM9-A. Wayne PA: NCCLS
-
Zoccoli MA, Chan M, Erker JC, Ferreira-Gonzalez A, Lubin IM. Nucleic Acid Sequencing Methods in Diagnostic Laboratory Medicin; Approved Guideline. NCCLS document MM9-A. Wayne, PA: NCCLS; 2004.
-
(2004)
Nucleic Acid Sequencing Methods in Diagnostic Laboratory Medicin; Approved Guideline
-
-
Zoccoli, M.A.1
Chan, M.2
Erker, J.C.3
Ferreira-Gonzalez, A.4
Lubin, I.M.5
-
2
-
-
0033066787
-
Association for Molecular Pathology statement: Recommendations for in-house development and operation of molecular diagnostic tests
-
Association for Molecular Pathology
-
Association for Molecular Pathology. Association for Molecular Pathology statement: recommendations for in-house development and operation of molecular diagnostic tests. Am J Clin Pathol. 1999;111(4):449-463.
-
(1999)
Am J Clin Pathol.
, vol.111
, Issue.4
, pp. 449-463
-
-
-
3
-
-
0012256562
-
Extensive sequencing of the cystic fibrosis transmembrane regulator gene: Assay validation and unexpected benefits of developing a comprehensive test
-
DOI 10.1097/00125817-200301000-00002
-
Strom CM, Huang D, Chen C, et al. Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test. Genet Med. 2003;5(1):9-14. (Pubitemid 41184271)
-
(2003)
Genetics in Medicine
, vol.5
, Issue.1
, pp. 9-14
-
-
Strom, C.M.1
Huang, D.2
Chen, C.3
Buller, A.4
Peng, M.5
Quan, F.6
Redman, J.7
Sun, W.8
-
4
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol. 2000;132:365-386.
-
(2000)
Methods Mol Biol.
, vol.132
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.2
-
5
-
-
34948901347
-
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene
-
DOI 10.1002/humu.20544
-
Calderon FR, Phansalkar AR, Crockett DK, Miller M, Mao R. Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene. Hum Mutat. 2007;28(10):939-943. (Pubitemid 47519385)
-
(2007)
Human Mutation
, vol.28
, Issue.10
, pp. 939-943
-
-
Calderon, F.R.O.1
Phansalkar, A.R.2
Crockett, D.K.3
Miller, M.4
Mao, R.5
-
6
-
-
77955079810
-
The Alport syndrome COL4A5 variant database
-
Crockett DK, Pont-Kingdon G, Gedge F, Sumner K, Seamons R, Lyon E. The Alport syndrome COL4A5 variant database. Hum Mutat. 2010;31(8):E1652-E1657.
-
(2010)
Hum Mutat.
, vol.31
, Issue.8
-
-
Crockett, D.K.1
Pont-Kingdon, G.2
Gedge, F.3
Sumner, K.4
Seamons, R.5
Lyon, E.6
-
7
-
-
42149139456
-
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
-
DOI 10.1097/GIM.0b013e31816b5cae, PII 0012581720080400000009
-
Richards CS, Bale S, Bellissimo DB, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet Med. 2008;10(4):294-300. (Pubitemid 351544132)
-
(2008)
Genetics in Medicine
, vol.10
, Issue.4
, pp. 294-300
-
-
Richards, C.S.1
Bale, S.2
Bellissimo, D.B.3
Das, S.4
Grody, W.W.5
Hegde, M.R.6
Lyon, E.7
Ward, B.E.8
-
8
-
-
77954380684
-
Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: Diagnostic and clinical implications
-
Tsiatis AC, Norris-Kirby A, Rich RG, et al. Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications. J Mol Diagn. 2010;12(4):425-432.
-
(2010)
J Mol Diagn.
, vol.12
, Issue.4
, pp. 425-432
-
-
Tsiatis, A.C.1
Norris-Kirby, A.2
Rich, R.G.3
-
9
-
-
0031955518
-
Base-calling of automated sequencer traces using phred. I. Accuracy assessment
-
Ewing B, Hillier L, Wendl MC, Green P. Base-calling of automated sequencer traces using phred: I, accuracy assessment. Genome Res. 1998;8(3):175-185. (Pubitemid 28177229)
-
(1998)
Genome Research
, vol.8
, Issue.3
, pp. 175-185
-
-
Ewing, B.1
Hillier, L.2
Wendl, M.C.3
Green, P.4
-
10
-
-
0031978181
-
Base-calling of automated sequencer traces using phred. II. Error probabilities
-
Ewing B, Green P. Base-calling of automated sequencer traces using phred: II, error probabilities. Genome Res. 1998;8(3):186-194. (Pubitemid 28177230)
-
(1998)
Genome Research
, vol.8
, Issue.3
, pp. 186-194
-
-
Ewing, B.1
Green, P.2
-
11
-
-
34250175491
-
Clinical laboratory reports in molecular pathology
-
Gulley ML, Braziel RM, Halling KC, et al. Clinical laboratory reports in molecular pathology. Arch Pathol Lab Med. 2007;131(6):852-863. (Pubitemid 46906376)
-
(2007)
Archives of Pathology and Laboratory Medicine
, vol.131
, Issue.6
, pp. 852-863
-
-
Gulley, M.L.1
Braziel, R.M.2
Halling, K.C.3
Hsi, E.D.4
Kant, J.A.5
Nikiforova, M.N.6
Nowak, J.A.7
Ogino, S.8
Oliveira, A.9
Polesky, H.F.10
Silverman, L.11
Tubbs, R.R.12
Van Deerlin, V.M.13
Vance, G.H.14
Versalovic, J.15
|