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Results: 1-11 |
Results: 11
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma
Authors: Milunsky, JM Maher, TA Michels, VV Milunsky, A
Citation: Jm. Milunsky et al., Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma, AM J MED G, 100(4), 2001, pp. 311-314
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy
Authors: Olson, TM Kishimoto, NY Whitby, FG Michels, VV
Citation: Tm. Olson et al., Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy, J MOL CEL C, 33(4), 2001, pp. 723-732
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas
Authors: Cunningham, JM Kim, CY Christensen, ER Tester, DJ Parc, Y Burgart, LJ Halling, KC McDonnell, SK Schaid, DJ Vockley, CW Kubly, V Nelson, H Michels, VV Thibodeau, SN
Citation: Jm. Cunningham et al., The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas, AM J HU GEN, 69(4), 2001, pp. 780-790
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
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay
Authors: Urban, Z Michels, VV Thibodeau, SN Davis, EC Bonnefont, JP Munnich, A Eyskens, B Gewillig, M Devriendt, K Boyd, CD
Citation: Z. Urban et al., Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay, HUM GENET, 106(6), 2000, pp. 577-588
Inherited interstitial deletion of chromosomes 5p and 16q without apparentphenotypic effect: further confirmation
Authors: Hand, JL Michels, VV Marinello, MJ Ketterling, RP Jalal, SM
Citation: Jl. Hand et al., Inherited interstitial deletion of chromosomes 5p and 16q without apparentphenotypic effect: further confirmation, PRENAT DIAG, 20(2), 2000, pp. 144-148
von Hippel-Lindau disease
Authors: Couch, V Lindor, NM Karnes, PS Michels, VV
Citation: V. Couch et al., von Hippel-Lindau disease, MAYO CLIN P, 75(3), 2000, pp. 265-272
Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts
Authors: Urban, Z Michels, VV Thibodeau, SN Donis-Keller, H Csiszar, K Boyd, CD
Citation: Z. Urban et al., Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts, HUM GENET, 104(2), 1999, pp. 135-142
Refined gene localization for MRX7
Authors: Tackels, D Schwartz, CE Thibodeau, SN Michels, VV
Citation: D. Tackels et al., Refined gene localization for MRX7, AM J MED G, 85(3), 1999, pp. 288-289
Guidelines for buccal smear collection in breast-fed infants
Authors: Babovic-Vuksanovic, D Michels, VV Law, ME Bailey, R Wyatt, WA Lindor, NM Jalal, SM
Citation: D. Babovic-vuksanovic et al., Guidelines for buccal smear collection in breast-fed infants, AM J MED G, 84(4), 1999, pp. 357-360
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
Authors: Babovic-Vuksanovic, D Patterson, MC Schwenk, WF O'Brien, JF Vockley, J Freeze, HH Mehta, DP Michels, VV
Citation: D. Babovic-vuksanovic et al., Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome, J PEDIAT, 135(6), 1999, pp. 775-781
Risultati: 1-11 |