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A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document

European journal of human genetics : EJHG, 2014-01, Vol.22 (1), p.12-17

2014

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The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration

Archives of public health = Archives belges de santé publique, 2014-10, Vol.72 (1), p.35-35, Article 35

2014

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National plans and strategies on rare diseases in Europe

Advances in experimental medicine and biology, 2010, Vol.686, p.475

2010

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National Registries of Rare Diseases in Europe: An Overview of the Current Situation and Experiences

Public health genomics, 2015-01, Vol.18 (1), p.20-25

2015

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CYP-specific bioactivation of four organophosphorothioate pesticides by human liver microsomes

Toxicology and applied pharmacology, 2003-02, Vol.186 (3), p.143-154

2003

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European Project for Rare Diseases National Plans Development (EUROPLAN)

Orphanet journal of rare diseases, 2010-10, Vol.5 (S1), p.P2-P2, Article P2

2010

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Metabolism of chloroform in the human liver and identification of the competent P450s

Drug metabolism and disposition, 2003-03, Vol.31 (3), p.266-274

2003

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EPIRARE survey on activities and needs of rare disease registries in the European Union

Orphanet journal of rare diseases, 2012-01, Vol.7 (Suppl 2), p.A22-A22

2012

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The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases

International journal of environmental research and public health, 2018-07, Vol.15 (7), p.1470

2018

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Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result

Journal of inherited metabolic disease, 2012-07, Vol.35 (4), p.603-611

2012

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Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow-up and quality assurance

Journal of inherited metabolic disease, 2012-07, Vol.35 (4), p.613-625

2012

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Bioactivation, toxicokinetics and acute effects of chloroform in fisher 344 and Osborne Mendel Male rats

Journal of applied toxicology, 2004-05, Vol.24 (3), p.203-210

2004

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Rare Disease Registries Classification and Characterization: A Data Mining Approach

Public health genomics, 2015-01, Vol.18 (2), p.113-122

2015

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A critical review of comparative acute toxicity data on freshwater fish

Aquatic Toxicology, 1991, Vol.19 (3), p.167-204

1991

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Current status of Italian Registries on inherited bleeding disorders

Blood transfusion = Trasfusione del sangue, 2014-04, Vol.12 Suppl 3 (Suppl 3), p.s576-s581

2014

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Characterization and classification of Rare Disease Registries by using exploratory data analyses

Orphanet journal of rare diseases, 2014-11, Vol.9 (9042), p.P4-P4

2014

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The Italian National Rare Diseases Registry

Blood transfusion = Trasfusione del sangue, 2014-04, Vol.12 Suppl 3 (Suppl 3), p.s606-s613

2014

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Transportation of pesticides in estuaries of Louros and Arachthos rivers (Amvrakikos Gulf, N. W. Greece)

Science of the Total Environment, 1995-01, Vol.171 (1), p.85-93

1995

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Evaluation of population newborn screening practices for rare disorders in member states of the European Union

Orphanet journal of rare diseases, 2010-10, Vol.5 (S1), p.P26-P26, Article P26

2010

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Degradation capacities of chlorotoluron and simazine in subsoil horizons

Science of the total environment, 1995-10, Vol.171 (1), p.43-50

1995

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Identification of the cytochrome P450 isoenzymes involved in the metabolism of diazinon in the rat liver

Journal of biochemical and molecular toxicology, 1999, Vol.13 (1), p.53-61

1999

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Ground water in the Po basin: some problems relating to its use and protection

Science of the Total Environment, 1995-01, Vol.171 (1), p.17-27

1995

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The Italian National Centre for Rare Diseases: where research and public health translate into action

Blood transfusion = Trasfusione del sangue, 2014-04, Vol.12 Suppl 3 (Suppl 3), p.s591-s605

2014

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The adverse effects of nitrates on stone monuments

Science of the Total Environment, 1995-01, Vol.171 (1), p.173-182

1995

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Kinetic parameters of OPT pesticide desulfuration by c-DNA expressed human CYPs

Environmental toxicology and pharmacology, 2002-07, Vol.11 (3), p.181-190

2002

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A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document

The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration

National plans and strategies on rare diseases in Europe

National Registries of Rare Diseases in Europe: An Overview of the Current Situation and Experiences

CYP-specific bioactivation of four organophosphorothioate pesticides by human liver microsomes

European Project for Rare Diseases National Plans Development (EUROPLAN)

Metabolism of chloroform in the human liver and identification of the competent P450s

EPIRARE survey on activities and needs of rare disease registries in the European Union

The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow-up and quality assurance

Bioactivation, toxicokinetics and acute effects of chloroform in fisher 344 and Osborne Mendel Male rats

Rare Disease Registries Classification and Characterization: A Data Mining Approach

A critical review of comparative acute toxicity data on freshwater fish

Current status of Italian Registries on inherited bleeding disorders

Characterization and classification of Rare Disease Registries by using exploratory data analyses

The Italian National Rare Diseases Registry

Transportation of pesticides in estuaries of Louros and Arachthos rivers (Amvrakikos Gulf, N. W. Greece)

Evaluation of population newborn screening practices for rare disorders in member states of the European Union

Degradation capacities of chlorotoluron and simazine in subsoil horizons

Identification of the cytochrome P450 isoenzymes involved in the metabolism of diazinon in the rat liver

Ground water in the Po basin: some problems relating to its use and protection

The Italian National Centre for Rare Diseases: where research and public health translate into action

The adverse effects of nitrates on stone monuments

Kinetic parameters of OPT pesticide desulfuration by c-DNA expressed human CYPs

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