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Germline mutations in the ribonuclease L gene in families showing linkage with HPC1 J Carpten, N Nupponen, S Isaacs, R Sood, C Robbins, J Xu, M Faruque, ... Nature genetics 30 (2), 181-184, 2002 | 686 | 2002 |
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data DW Bianchi, JL Simpson, LG Jackson, S Elias, W Holzgreve, MI Evans, ... Prenatal Diagnosis: Published in Affiliation With the International Society …, 2002 | 558 | 2002 |
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Expression and characterization of the cystic fibrosis transmembrane conductance regulator RJ Gregory, SH Cheng, DP Rich, J Marshall, S Paul, K Hehir, ... Nature 347 (6291), 382-386, 1990 | 471 | 1990 |
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Polycystin 1 is required for the structural integrity of blood vessels K Kim, I Drummond, O Ibraghimov-Beskrovnaya, K Klinger, MA Arnaout Proceedings of the National Academy of Sciences 97 (4), 1731-1736, 2000 | 380 | 2000 |
Prenatal diagnosis with fetal cells isolated from maternal blood by multiparameter flow cytometry JO Price, S Elias, SS Wachtel, K Klinger, M Dockter, A Tharapel, ... American journal of obstetrics and gynecology 165 (6), 1731-1737, 1991 | 363 | 1991 |
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CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy MA Passini, J Bu, EM Roskelley, AM Richards, SP Sardi, CR O’Riordan, ... The Journal of clinical investigation 120 (4), 1253-1264, 2010 | 345 | 2010 |
Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens. BE Ward, SL Gersen, MP Carelli, NM McGuire, WR Dackowski, ... American journal of human genetics 52 (5), 854, 1993 | 335 | 1993 |
Amplification of a highly polymorphic VNTR segment by the polymerase chain reaction. GT Horn, B Richards, KW Klinger Nucleic Acids Research 17 (5), 2140, 1989 | 328 | 1989 |
Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine NO Bukanov, LA Smith, KW Klinger, SR Ledbetter, ... Nature 444 (7121), 949-952, 2006 | 318 | 2006 |
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Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease TJ Watnick, VE Torres, MA Gandolph, F Qian, LF Onuchic, KW Klinger, ... Molecular cell 2 (2), 247-251, 1998 | 243 | 1998 |