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Deborah A. Driscoll

university of pennsylvania

56H指数
174论文数
1.1W被引数
收录论文 30
发表时间
Risky Business: Meeting the Structural Needs of Transdisciplinary Science
err2017-12-01
err9
errOAAI
errWise, Paul H.; Shaw, Gary M.; Druzin, Maurice L.; Darmstadt, Gary L.; Quaintance, Cecele; Makinen, Elina; Relman, David A.; Quake, Stephen R.; Butte, Atul J.; Angst, Martin S.; Muglia, Louis J.; Macones, George; Driscoll, Deborah; Ober, Carole; Simpson, Joe Leigh; Katz, Michael; Howse, Jennifer; Stevenson, David K.
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Physicians' Communication of Down Syndrome Screening Test Results: The Influence of Physician Numeracy EDITORIAL COMMENT
err2011-12-01
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PREAI
errAnderson, Britta L.; Obrecht, Natalie A.; Chapman, Gretchen B.; Driscoll, Deborah A.; Schulkin, Jay
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Physicians' communication of Down syndrome screening test results: The influence of physician numeracy
err2011-08-01
err35
errOAAI
errAnderson, Britta L.; Obrecht, Natalie A.; Chapman, Gretchen B.; Driscoll, Deborah A.; Schulkin, Jay
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High-Resolution Genomic Arrays Identify CNVs that Phenocopy the Chromosome 22q11.2 Deletion Syndrome高分辨率基因组阵列鉴定表型复制染色体22 q11.2缺失综合征的cnv
err2010-12-09
err18
errOAAI
errBusse, Tracy; Graham, John M., Jr.; Feldman, Gerald; Perin, Juan; Catherwood, Anne; Knowlton, Robert; Rappaport, Eric F.; Emanuel, Beverly; Driscoll, Deborah A.; Saitta, Sulagna C.
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Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications
err2010-09-01
err7
PREAI
errFriedman, Lisa S.; Paulsen, Erin K.; Schadt, Kimberly A.; Brigatti, Karlla W.; Driscoll, Deborah A.; Farmer, Jennifer M.; Lynch, David R.
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Screening for Down syndrome: changing practice of obstetricians
err2009-04-01
err60
PREAI
errDriscoll, Deborah A.; Morgan, Maria A.; Schulkin, Jay
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The future is now: carrier screening for all populations
err2008-01-01
err204
errOAAI
errPletcher, Beth A.; Gross, Susan J.; Monaghan, Kristin G.; Driscoll, Deborah A.; Watson, Michael S.
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Indications for genetic referral: a guide for healthcare providers遗传转诊的适应症: 医疗保健提供者指南
err2007-06-01
err35
errOAAI
errPletcher, Beth A.; Toriello, Helga V.; Noblin, Sarah J.; Seaver, Laurie H.; Driscoll, Deborah A.; Bennett, Robin L.; Gross, Susan J.
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Fragile X syndrome: Diagnostic and carrier testing
err2005-10-01
err221
errOAAI
errSherman, S; Pletcher, BA; Driscoll, DA
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Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening
err2005-06-01
err23
PREAI
errMorgan, MA; Driscoll, DA; Zinberg, S; Schulkin, J; Mennuti, MT
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Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice
err2004-09-15
err143
errOAAI
errVeugelers, M; Wilkes, D; Burton, K; McDermott, DA; Song, Y; Goldstein, MM; La Perle, K; Vaughan, CJ; O'Hagan, A; Bennett, KR; Meyer, BJ; Legius, E; Karttunen, M; Norio, R; Kaariainen, H; Lavyner, M; Neau, JP; Richter, G; Kirali, K; Farnsworth, A; Stapleton, K; Morelli, P; Takanashi, Y; Bamforth, JS; Eitelberger, F; Noszian, I; Manfroi, W; Powers, J; Mochizuki, Y; Imai, T; Ko, GTC; Driscoll, DA; Goldmuntz, E; Edelberg, JM; Collins, A; Eccles, D; Irvine, AD; McKnight, GS; Basson, CT
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Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion
err2003-12-17
err135
errOAAI
errSaitta, SC; Harris, SE; Gaeth, AP; Driscoll, DA; McDonald-McGinn, DM; Maisenbacher, MK; Yersak, JM; Chakraborty, PK; Hacker, AM; Zackai, EH; Ashley, T; Emanuel, BS
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Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries)
err2003-12-09
err158
errOAAI
errMuncke, N; Jung, C; Rüdiger, H; Ulmer, H; Roeth, R; Hubert, A; Goldmuntz, E; Driscoll, D; Goodship, J; Schön, K; Rappold, G
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Chromosome 22q11 deletion in patients with ventricular septal defect: Frequency and associated cardiovascular anomalies
err2003-12-01
err58
PREAI
errMcElhinney, DB; Driscoll, DA; Levin, ER; Jawad, AF; Emanuel, BS; Goldmuntz, E
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Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22)
err2000-09-01
err70
errOAAI
errKurahashi, H; Shaikh, TH; Zackai, EH; Celle, L; Driscoll, DA; Budarf, ML; Emanuel, BS
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Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow
err2000-08-01
err88
PREAI
errEicher, PS; McDonald-McGinn, DM; Fox, CA; Driscoll, DA; Emanuel, BS; Zackai, EH
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cDNA cloning and characterization of a human sperm antigen (SPAG6) with homology to the product of the Chlamydomonas PF16 locus
err1999-09-01
err81
errOAAI
errNeilson, LI; Schneider, PA; Van Deerlin, PG; Kiriakidou, M; Driscoll, DA; Pellegrini, MC; Millinder, S; Yamamoto, KK; French, CK; Strauss, JF
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Thirty-seven candidate genes for polycystic ovary syndrome: Strongest evidence for linkage is with follistatin
err1999-07-20
err403
errOAAI
errUrbanek, M; Legro, RS; Driscoll, DA; Azziz, R; Ehrmann, DA; Norman, RJ; Strauss, JF; Spielman, RS; Dunaif, A
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