about
Improving the informed consent process in international collaborative rare disease research: effective consent for effective research.The risk of re-identification versus the need to identify individuals in rare disease researchIdentifying data sources for a national population-based registry: the experience of the Spanish Rare Diseases Registry.RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadridThe TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.The need for worldwide policy and action plans for rare diseases.The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.Trends in systemic lupus erythematosus mortality in Spain from 1981 to 2010.Toxic oil syndrome and eosinophilia-myalgia syndrome: May 8-10, 1991, World Health Organization meeting report.Operationalisation of the European Protocol for Autism Prevalence (EPAP) for Autism Spectrum Disorder Prevalence Measurement in Ireland.Characterization of immune cell phenotypes in adults with autism spectrum disorders.Fish consumption patterns and hair mercury levels in children and their mothers in 17 EU countries.Association of immunological cell profiles with specific clinical phenotypes of scleroderma disease.A pilot study on the feasibility of European harmonized human biomonitoring: Strategies towards a common approach, challenges and opportunities.Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study.National registries of rare diseases in Europe: an overview of the current situation and experiences.The current situation and needs of rare disease registries in Europe.Child health and the environment: the INMA Spanish Study.Automated strong cation exchange extraction of fatty acid esters of 3-(N-phenylamino)-1,2-propanediol from oil samples for routine quantification by HPLC-APCI/MS/MS.Cystic fibrosis mortality trends in Spain among infants and young children: 1981-2004.Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.Toxic oil syndrome: genetic restriction and immunomodulatory effects due to adulterated oils in a model of HLA transgenic mice.RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases.Genetic approaches in the understanding of Toxic Oil Syndrome.Early Detection and Intervention of ASD: A European Overview.Estimating the burden of disease for autism spectrum disorders in Spain in 2003.SpainUDP: The Spanish Undiagnosed Rare Diseases ProgramA Nationwide Registry-Based Study on Mortality Due to Rare Congenital AnomaliesGeographic Analysis of Motor Neuron Disease Mortality and Heavy Metals Released to Rivers in SpainMortality Due to Cystic Fibrosis over a 36-Year Period in Spain: Time Trends and Geographic VariationsImmunological basis of toxic oil syndrome (TOS)Cytokine mRNA expression in lung tissue from toxic oil syndrome patients: a TH2 immunological mechanismUmbilical cord blood banking for unrelated transplantation: evaluation of cell separation and storage methodsFrequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationshipsA call for global action for rare diseases in AfricaThe ASDEU autism prevalence study in northern Spain
P50
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P50
description
hulumtues
@sq
internist
@nl
researcher
@en
ricercatore
@it
հետազոտող
@hy
name
Manuel Posada
@ast
Manuel Posada
@en
Manuel Posada
@es
Manuel Posada
@nl
Manuel Posada
@sl
type
label
Manuel Posada
@ast
Manuel Posada
@en
Manuel Posada
@es
Manuel Posada
@nl
Manuel Posada
@sl
prefLabel
Manuel Posada
@ast
Manuel Posada
@en
Manuel Posada
@es
Manuel Posada
@nl
Manuel Posada
@sl
P1153
P1006
P214
P227
P1006
P1053
C-3832-2008
P1153
56472570600
57195355691
7003562376
P21
P214
P227
P31
P3829
P496
0000-0002-8372-4180
P735
P7859
lccn-no2010163699