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Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy

Clinical genetics, 2015-12, Vol.88 (6), p.597-599

2015

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Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

Nature genetics, 2001-08, Vol.28 (4), p.350-354

2001

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Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

American journal of human genetics, 1998-08, Vol.63 (2), p.541-546

1998

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A Systematic Approach to Preclinical and Clinical Safety Biomarker Qualification Incorporating Bradford Hill's Principles of Causality Association

Clinical pharmacology and therapeutics, 2010-08, Vol.88 (2), p.260-262

2010

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Elements of informed consent for pharmacogenetic research; perspective of the pharmacogenetics working group

The pharmacogenomics journal, 2002, Vol.2 (5), p.284-292

2002

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A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25

American journal of human genetics, 1999-02, Vol.64 (2), p.526-532

1999

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Incidence and outcome of prone positioning following police use of force in a prospective, consecutive cohort of subjects

Journal of forensic and legal medicine, 2012-02, Vol.19 (2), p.83-89

2012

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P-325 Oral delivery of a single microbial strain, EDP1503, induces anti-tumor responses via gut-mediated activation of both innate and adaptive immunity

Annals of oncology, 2020-07, Vol.31, p.S195

2020

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The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2

European journal of human genetics : EJHG, 1999-10, Vol.7 (7), p.815-820

1999

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A gene for ataxic cerebral palsy maps to chromosome 9p12-q12

European journal of human genetics : EJHG, 2000-04, Vol.8 (4), p.267-272

2000

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A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

Journal of medical genetics, 1997-12, Vol.34 (12), p.1015-1017

1997

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A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24

American journal of human genetics, 1998-05, Vol.62 (5), p.1070-1076

1998

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Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness

American journal of human genetics, 1998-05, Vol.62 (5), p.1123-1128

1998

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Pain perception is altered by a nucleotide polymorphism in SCN9A

Proceedings of the National Academy of Sciences - PNAS, 2010-03, Vol.107 (11), p.5148-5153

2010

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Report on the joint EFPIA, DIA and EMEA pharmacogenetics workshop: moving toward clinical application

Pharmacogenomics, 2004-09, Vol.5 (6), p.731-739

2004

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Preoperative ICU tours: are they helpful?

American journal of critical care, 1997-03, Vol.6 (2), p.106-115

1997

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Obtaining a pulmonary artery wedge pressure

Critical care nurse, 1997-10, Vol.17 (5), p.94-95

Lynn-McHale, D J

1997

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Continuous levodopa infusions to treat complex dystonia in Parkinson's disease

Neurology, 1989-07, Vol.39 (7), p.888-888

1989

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Benefits of monitoring plasma levodopa in Parkinson's disease patients with drug-induced chorea

Annals of neurology, 1991-06, Vol.29 (6), p.623-628

1991

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Clinical Outcomes of Computed Tomography–Based Volumetric Brachytherapy Planning for Cervical Cancer

International journal of radiation oncology, biology, physics, 2015-09, Vol.93 (1), p.150-157

2015

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Complex dystonia of Parkinson's disease : clinical features and relation to plasma Levodopa profile

Clinical neuropharmacology, 1990-04, Vol.13 (2), p.164-170

1990

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Survival of women with microinvasive adenocarcinoma of the cervix is not improved by radical surgery

American journal of obstetrics and gynecology, 2017-09, Vol.217 (3), p.332.e1-332.e6

2017

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Pharmacogenetics: Development Issues and Solutions for Safe and Effective Medicines

Pharmacogenomics, 2006-03, Vol.7 (2), p.149

2006

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Withdrawing life support: Who decides?

The American journal of nursing, 1995-11, Vol.95 (11), p.47-49

1995

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Need satisfaction levels of family members of critical care patients and accuracy of nurses' perceptions

Heart & lung, 1988-07, Vol.17 (4), p.447

1988

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Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

A Systematic Approach to Preclinical and Clinical Safety Biomarker Qualification Incorporating Bradford Hill's Principles of Causality Association

Elements of informed consent for pharmacogenetic research; perspective of the pharmacogenetics working group

A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25

Incidence and outcome of prone positioning following police use of force in a prospective, consecutive cohort of subjects

P-325 Oral delivery of a single microbial strain, EDP1503, induces anti-tumor responses via gut-mediated activation of both innate and adaptive immunity

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2

A gene for ataxic cerebral palsy maps to chromosome 9p12-q12

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24

Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness

Pain perception is altered by a nucleotide polymorphism in SCN9A

Report on the joint EFPIA, DIA and EMEA pharmacogenetics workshop: moving toward clinical application

Preoperative ICU tours: are they helpful?

Obtaining a pulmonary artery wedge pressure

Continuous levodopa infusions to treat complex dystonia in Parkinson's disease

Benefits of monitoring plasma levodopa in Parkinson's disease patients with drug-induced chorea

Clinical Outcomes of Computed Tomography–Based Volumetric Brachytherapy Planning for Cervical Cancer

Complex dystonia of Parkinson's disease : clinical features and relation to plasma Levodopa profile

Survival of women with microinvasive adenocarcinoma of the cervix is not improved by radical surgery

Pharmacogenetics: Development Issues and Solutions for Safe and Effective Medicines

Withdrawing life support: Who decides?

Need satisfaction levels of family members of critical care patients and accuracy of nurses' perceptions

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