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Regulatory SNP Causes a Human Genetic Disease by Creating a New Transcriptional Promoter

Science (American Association for the Advancement of Science), 2006-05, Vol.312 (5777), p.1215-1217

2006

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The polycystic kidney disease 1 ( PKD1 ) gene encodes a novel protein with multiple cell recognition domains

Nature genetics, 1995-06, Vol.10 (2), p.151-160

1995

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Identification and characterization of the tuberous sclerosis gene on chromosome 16

Cell, 1993-12, Vol.75 (7), p.1305-1315

The European Chromosome 16 Tuberous Sclerosis Consortium

1993

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Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome

Nature genetics, 1994-12, Vol.8 (4), p.328-332

1994

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Comparative Analysis of the Polycystic Kidney Disease 1 (PKD1) Gene Reveals an Integral Membrane Glycoprotein with Multiple Evolutionary Conserved Domains

Human molecular genetics, 1997-09, Vol.6 (9), p.1483-1489

1997

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Prevention of Sexually Transmitted Diseases (STDs) in Female Sex Workers: Prospective Evaluation of Condom Promotion and Strengthened STD Services

Sexually transmitted diseases, 2003-04, Vol.30 (4), p.273-279

2003

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Tissue-specific histone modification and transcription factor binding in a globin gene expression

Blood, 2007, Vol.110 (13), p.4503-4510

2007

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Comparison of clinical features, CD4 and CD8 responses among patients with acute HIV-1 infection from Geneva, Seattle and Sydney

AIDS (London), 2000-03, Vol.14 (4), p.375-381

2000

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Autosomal dominant polycystic kidney disease : molecular analysis

Human molecular genetics, 1995-01, Vol.4 (suppl_1), p.1745-1749

1995

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Catechol‐O‐methyltransferase genotype modulates cancer treatment‐related cognitive deficits in breast cancer survivors

Cancer, 2011-04, Vol.117 (7), p.1369-1376

2011

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Role of age in acute type A aortic dissection outcome: Report from the International Registry of Acute Aortic Dissection (IRAD)

The Journal of thoracic and cardiovascular surgery, 2010-10, Vol.140 (4), p.784-789

2010

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The Apgar score

Pediatrics (Evanston), 2006-04, Vol.117 (4), p.1444-1447

2006

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Hepatitis C pharmacogenetics: State of the art in 2010

Hepatology (Baltimore, Md.), 2011-01, Vol.53 (1), p.336-345

2011

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Guidelines for prevention and control of group A streptococcal infection in acute healthcare and maternity settings in the UK

The Journal of infection, 2012-01, Vol.64 (1), p.1-18

2012

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Consistency between guidelines and reported practice for reducing the risk of catheter-related infection in British paediatric intensive care units

Intensive care medicine, 2011-10, Vol.37 (10), p.1641-1647

2011

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Effect of Vegetables, Tea, and Soy on Endogenous N-Nitrosation, Fecal Ammonia, and Fecal Water Genotoxicity During a High Red Meat Diet in Humans

Nutrition and cancer, 2002, Vol.42 (1), p.70-77

2002

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In re HMO versus fee-for-service systems. Authors' reply

Journal of the American Geriatrics Society (JAGS), 2001, Vol.49 (3), p.334-335

2001

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Increased responsiveness of dopamine to atypical, but not typical antipsychotics in the medial prefrontal cortex of rats reared in isolation: Special Issue on the Psychopharmacology of Prepulse Inhibition: Basic and Clinic Studies

Psychopharmacologia, 2001, Vol.156 (2-3), p.338-351

2001

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Statistical issues for HIV surrogate endpoints: point/counterpoint

Statistics in medicine, 1998-11, Vol.17 (21), p.2435-2462

1998

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Clinical assessment of the neonatal Dinamap 847 during anesthesia in neonates and infants

Journal of clinical monitoring, 1987-10, Vol.3 (4), p.229-234

1987

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Recovery of S. epidermidis and E. coli from effluent peritoneal dialysate

Peritoneal dialysis international, 1991, Vol.11 (1), p.69-72

1991

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CT and MR imaging in cystic abdominal lymphangiomatosis

Journal of computer assisted tomography, 1989-05, Vol.13 (3), p.534-536

1989

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Regulatory SNP Causes a Human Genetic Disease by Creating a New Transcriptional Promoter

The polycystic kidney disease 1 ( PKD1 ) gene encodes a novel protein with multiple cell recognition domains

Identification and characterization of the tuberous sclerosis gene on chromosome 16

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome

Comparative Analysis of the Polycystic Kidney Disease 1 (PKD1) Gene Reveals an Integral Membrane Glycoprotein with Multiple Evolutionary Conserved Domains

Prevention of Sexually Transmitted Diseases (STDs) in Female Sex Workers: Prospective Evaluation of Condom Promotion and Strengthened STD Services

Tissue-specific histone modification and transcription factor binding in a globin gene expression

Comparison of clinical features, CD4 and CD8 responses among patients with acute HIV-1 infection from Geneva, Seattle and Sydney

Autosomal dominant polycystic kidney disease : molecular analysis

Catechol‐O‐methyltransferase genotype modulates cancer treatment‐related cognitive deficits in breast cancer survivors

Role of age in acute type A aortic dissection outcome: Report from the International Registry of Acute Aortic Dissection (IRAD)

The Apgar score

Hepatitis C pharmacogenetics: State of the art in 2010

Guidelines for prevention and control of group A streptococcal infection in acute healthcare and maternity settings in the UK

Consistency between guidelines and reported practice for reducing the risk of catheter-related infection in British paediatric intensive care units

Effect of Vegetables, Tea, and Soy on Endogenous N-Nitrosation, Fecal Ammonia, and Fecal Water Genotoxicity During a High Red Meat Diet in Humans

In re HMO versus fee-for-service systems. Authors' reply

Increased responsiveness of dopamine to atypical, but not typical antipsychotics in the medial prefrontal cortex of rats reared in isolation: Special Issue on the Psychopharmacology of Prepulse Inhibition: Basic and Clinic Studies

Statistical issues for HIV surrogate endpoints: point/counterpoint

Clinical assessment of the neonatal Dinamap 847 during anesthesia in neonates and infants

Recovery of S. epidermidis and E. coli from effluent peritoneal dialysate

CT and MR imaging in cystic abdominal lymphangiomatosis

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