AAAAAA

   
Results: 1-18 |
Results: 18
Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: Phenotypic presentation and implications for mutation detectionassays
Authors: Mao, R O'Brien, JF Rao, S Schmitt, E Roa, B Feldman, GL Spence, WC Snow, K
Citation: R. Mao et al., Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: Phenotypic presentation and implications for mutation detectionassays, MOL GEN MET, 72(3), 2001, pp. 248-253
A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair
Authors: Boardman, LA Schmidt, S Lindor, NM Burgart, LJ Cunningham, JM Price-Troska, T Snow, K Ahlquist, DA Thibodeau, SN
Citation: La. Boardman et al., A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair, GENE CHROM, 30(2), 2001, pp. 181-186
The growing impact of genetics on health care: Do we have appropriate educational resources?
Authors: Snow, K
Citation: K. Snow, The growing impact of genetics on health care: Do we have appropriate educational resources?, MAYO CLIN P, 76(8), 2001, pp. 769-771
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1
Authors: Sun, XF Marks, DL Park, WD Wheatley, CL Puri, V O'Brien, JF Kraft, DL Lundquist, PA Patterson, MC Pagano, RE Snow, K
Citation: Xf. Sun et al., Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1, AM J HU GEN, 68(6), 2001, pp. 1361-1372
Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin
Authors: Mao, R Jalal, SM Snow, K Michels, VV Szabo, SM Babovic-Vuksanovic, D
Citation: R. Mao et al., Characteristics of two cases with dup(15)(q11.2-q12): one of maternal and one of paternal origin, GENET MED, 2(2), 2000, pp. 131-135
Null alleles at the Huntington disease locus: Implications for diagnosticsand CAG repeat instability
Authors: Williams, LC Hegde, MR Nagappan, R Faull, RLM Giles, J Winship, I Snow, K Love, DR
Citation: Lc. Williams et al., Null alleles at the Huntington disease locus: Implications for diagnosticsand CAG repeat instability, GENET TEST, 4(1), 2000, pp. 55-60
Conspiracy of silence (Lack of press freedom in Burkina Faso)
Authors: Zongo, N Snow, K
Citation: N. Zongo et K. Snow, Conspiracy of silence (Lack of press freedom in Burkina Faso), INDEX CENS, 29(4), 2000, pp. 89-89
Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: Results from a collaborative study
Authors: Monaghan, KG Feldman, GL Barbarotto, GM Manji, S Desai, TK Snow, K
Citation: Kg. Monaghan et al., Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: Results from a collaborative study, AM J MED G, 95(4), 2000, pp. 361-365
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease
Authors: Fernandez, M McCain, ME Martinez, RA Snow, K Lipe, H Ravits, J Bird, TD La Spada, AR
Citation: M. Fernandez et al., Late-onset SCA2: 33 CAG repeats are sufficient to cause disease, NEUROLOGY, 55(4), 2000, pp. 569-572
Converting visual acuity to utilities
Authors: Sharma, S Brown, GC Brown, MM Shah, GK Snow, K Brown, H Hollands, H
Citation: S. Sharma et al., Converting visual acuity to utilities, CAN J OPHTH, 35(5), 2000, pp. 267-272
Mannose-binding lectin (MBL) deficiency. Variant alleles in a Midwestern population of the United States
Authors: Babovic-Vuksanovic, D Snow, K Ten, RM
Citation: D. Babovic-vuksanovic et al., Mannose-binding lectin (MBL) deficiency. Variant alleles in a Midwestern population of the United States, ANN ALLER A, 82(2), 1999, pp. 134
Teacher perceptions of self-determination: Benefits, characteristics, strategies
Authors: Agran, M Snow, K Swaner, J
Citation: M. Agran et al., Teacher perceptions of self-determination: Benefits, characteristics, strategies, EDUC TRAIN, 34(3), 1999, pp. 293-301
A survey of secondary level teachers' opinions on community-based instruction and inclusive education
Authors: Agran, M Snow, K Swaner, J
Citation: M. Agran et al., A survey of secondary level teachers' opinions on community-based instruction and inclusive education, J ASSN PERS, 24(1), 1999, pp. 58-62
Double heterozygosity for Db G-San Jose [beta 7(A4)Glu -> Gly] and Hb Fukuoka [beta 2(NA2)His -> Tyr] in a 2-1/2-year-old girl
Authors: Farah, RA Buchanan, GR Timmons, CF Phillips, L Fairbanks, VF Snow, K Hoyer, JD
Citation: Ra. Farah et al., Double heterozygosity for Db G-San Jose [beta 7(A4)Glu -> Gly] and Hb Fukuoka [beta 2(NA2)His -> Tyr] in a 2-1/2-year-old girl, HEMOGLOBIN, 23(4), 1999, pp. 383-387
DNA sequence analysis of Hb Leiden [beta 6(A3) or beta 7(A4) Glu -> 0]
Authors: Hoyer, JD Wick, MJ Snow, K Finkelstein, W Fairbanks, VF
Citation: Jd. Hoyer et al., DNA sequence analysis of Hb Leiden [beta 6(A3) or beta 7(A4) Glu -> 0], HEMOGLOBIN, 23(3), 1999, pp. 299-301
Molecular diagnostics on microfabricated electrophoretic devices: From slab gel- to capillary- to microchip-based assays for T- and B-cell lymphoproliferative disorders
Authors: Munro, NJ Snow, K Kant, EA Landers, JP
Citation: Nj. Munro et al., Molecular diagnostics on microfabricated electrophoretic devices: From slab gel- to capillary- to microchip-based assays for T- and B-cell lymphoproliferative disorders, CLIN CHEM, 45(11), 1999, pp. 1906-1917
Immunogenicity of P/Q-type calcium channel in small cell lung cancer: investigation of alpha 1 subunit polyglutamine expansion
Authors: Black, JL Nelson, TR Snow, K Lennon, VA
Citation: Jl. Black et al., Immunogenicity of P/Q-type calcium channel in small cell lung cancer: investigation of alpha 1 subunit polyglutamine expansion, TISSUE ANTI, 54(6), 1999, pp. 592-596
The forward bias: is it a money tree?
Authors: Phillips, KL Snow, K
Citation: Kl. Phillips et K. Snow, The forward bias: is it a money tree?, ECON LETT, 61(3), 1998, pp. 373-379
Risultati: 1-18 |