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life sciences & biomedicine (37) 37
science & technology (37) 37
humans (30) 30
biological and medical sciences (14) 14
biochemistry & molecular biology (11) 11
medical sciences (9) 9
medicine, research & experimental (9) 9
rare diseases (9) 9
research & experimental medicine (9) 9
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genetics & heredity (7) 7
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registries (7) 7
virology (7) 7
molecular sequence data (6) 6
patients (6) 6
amino acid sequence (5) 5
cardiovascular (5) 5
data sharing (5) 5
fundamental and applied biological sciences. psychology (5) 5
genomics (5) 5
hematology, oncology and palliative medicine (5) 5
medical research (5) 5
microbiology (5) 5
patient registry (5) 5
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rare diseases - epidemiology (5) 5
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genetics (4) 4
medical ethics (4) 4
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national institutes of health (4) 4
patient registries (4) 4
quality (4) 4
research (4) 4
tumor cells, cultured (4) 4
united states (4) 4
aids vaccines - immunology (3) 3
analysis (3) 3
base sequence (3) 3
bioethics (3) 3
bioinformatics (3) 3
biomedical research - methods (3) 3
biospecimen (3) 3
cell line (3) 3
common data elements (3) 3
computational biology (3) 3
data collection (3) 3
ethics (3) 3
female (3) 3
gene expression regulation (3) 3
health sciences (3) 3
hiv envelope protein gp120 - immunology (3) 3
hälsovetenskaper (3) 3
information dissemination (3) 3
interoperability (3) 3
medical and health sciences (3) 3
medicin och hälsovetenskap (3) 3
medicine, experimental (3) 3
mice (3) 3
mutation (3) 3
peptide fragments - immunology (3) 3
promoter regions, genetic (3) 3
protein binding (3) 3
quality control (3) 3
rare disease (3) 3
rare diseases - diagnosis (3) 3
rare diseases - therapy (3) 3
registries - standards (3) 3
registry (3) 3
researchers (3) 3
adaptor proteins, signal transducing (2) 2
antibiotics. antiinfectious agents. antiparasitic agents (2) 2
antiviral agents (2) 2
apoptosis (2) 2
arbetsmedicin och miljömedicin (2) 2
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brain (2) 2
brisq (2) 2
cancer (2) 2
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charters (2) 2
chromatin (2) 2
chromatin - metabolism (2) 2
clinical trials (2) 2
collection (2) 2
consent (2) 2
cooperative behavior (2) 2
corrigendum (2) 2
data accuracy (2) 2
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1. Full Text Recommendations for improving the quality of rare disease registries
by Koa, Yllka and Weinbach, J. rôme and Posada-de-la-Paz, Manuel and Coi, Alessio and Lemonnier, S. Lydie and van Enckevort, David and Roos, Marco and Jacobsen, Annika and Cornet, Ronald and Ahmed, S. Faisal and Bros-Facer, Virginie and Popa, Veronica and van Meel, Marieke and Renault, Daniel and von Gizycki, Rainald and Santoro, Michele and Landais, Paul and Torreri, Paola and Carta, Claudio and Mascalzoni, Deborah and Gainotti, Sabina and Lopez, Estrella and Ambrosini, Anna and Müller, Heimo and Reis, Robert and Bianchi, Fabrizio and Rubinstein, Yaffa R and Lochmüller, Hanns and Taruscio, Domenica
International journal of environmental research and public health, ISSN 1661-7827, 2018, Volume 15, Issue 8, p. 1644
Rare diseases | Patient registry | Quality | Public, Environmental & Occupational Health | Environmental Sciences & Ecology | Life Sciences & Biomedicine | Science & Technology | Environmental Sciences | Data Accuracy | Quality Improvement | Registries - standards | Europe | Humans | Computational Biology | Information Storage and Retrieval - standards | Biomedical Research | Rare Diseases | Health care | Medical research | Experts | Clinical trials | Bioethics | Epidemiology | Patients | Information systems | Councils | Data collection | Population | Bioinformatics | General Data Protection Regulation | Public health | Index Medicus | rare diseases | Review | patient registry | quality
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2. Full Text International Charter of principles for sharing bio-specimens and data
by Mascalzoni, Deborah and Dove, Edward S and Rubinstein, Yaffa and Dawkins, Hugh J.S and Kole, Anna and Mccormack, Pauline and Woods, Simon and Riess, Olaf and Schaefer, Franz and Lochmüller, Hanns and Knoppers, Bartha M and Hansson, Mats
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2015, Volume 23, Issue 6, pp. 721 - 728
Biomedical research | Data collections | Genomics | Bioethics | Patients | Charters | Ethics | Privacy | Researchers | Information sharing | Genetics | Agreements | Public health | Cancer | Index Medicus
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3. Full Text NIH/NCATS/GRDR® Common Data Elements: A leading force for standardized data collection
by Rubinstein, Yaffa R and McInnes, Pamela
Contemporary clinical trials, ISSN 1551-7144, 2015, Volume 42, pp. 78 - 80
Hematology, Oncology and Palliative Medicine | Cardiovascular | Rare diseases | Patient registries | GUID | Data standardization | Data repository | Common Data Elements | Common data elements | Pharmacology & Pharmacy | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Common Data Elements - standards | Databases, Factual - standards | Rare Diseases - therapy | Humans | Rare Diseases - epidemiology | Biomedical Research - methods | Data Collection - methods | Analysis | Data entry | Index Medicus
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4. Full Text The case for a global rare-diseases registry
by Forrest, Christopher B and Bartek, Ronald J and Rubinstein, Yaffa and Groft, Stephen C
The Lancet (British edition), ISSN 0140-6736, 2011, Volume 377, Issue 9771, pp. 1057 - 1059
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Cooperative Behavior | Registries | International Cooperation | Rare Diseases | Humans | Infrastructure | Disease | Research & development--R&D | Public health | Index Medicus | Abridged Index Medicus
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5. Full Text Biospecimen Reporting for Improved Study Quality (BRISQ)
by Moore, Helen M and Kelly, Andrea B and Jewell, Scott D and McShane, Lisa M and Clark, Douglas P and Greenspan, Renata and Hayes, Daniel F and Hainaut, Pierre and Kim, Paula and Mansfield, Elizabeth and Potapova, Olga and Riegman, Peter and Rubinstein, Yaffa and Seijo, Edward and Somiari, Stella and Watson, Peter and Weier, Heinz-Ulrich and Zhu, Claire and Vaught, Jim and Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
Journal of proteome research, ISSN 1535-3893, 08/2011, Volume 10, Issue 8, pp. 3429 - 3438
biospecimen | specimen | processing | handling | collection | storage | sample | preanalytical | reporting | BRISQ | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Biochemical Research Methods | Science & Technology | Specimen Handling | Research - standards | Humans | Quality Control | Index Medicus | STORAGE | PATIENTS | 59 | AVAILABILITY | RECOMMENDATIONS | PROCESSING | COMMUNICATIONS | ANIMAL TISSUES
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6. Full Text The risk of re-identification versus the need to identify individuals in rare disease research
by Hansson, Mats G and Lochmüller, Hanns and Riess, Olaf and Schaefer, Franz and Orth, Michael and Rubinstein, Yaffa and Molster, Caron and Dawkins, Hugh and Taruscio, Domenica and Posada, Manuel and Woods, Simon
European journal of human genetics : EJHG, ISSN 1018-4813, 11/2016, Volume 24, Issue 11, pp. 1553 - 1558
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Privacy - ethics | Rare Diseases - genetics | Biomedical Research - ethics | Biomedical Research - legislation & jurisprudence | Genetic Testing - legislation & jurisprudence | Humans | Rare Diseases - diagnosis | Biomedical Research - methods | Genetic Privacy - legislation & jurisprudence | Genetic Testing - ethics | International Cooperation | Genetic Testing - methods | Medical research | Pediatrics | Personal health | Genomics | Bioethics | Patients | Privacy | Ethics | Social research | Identity theft | Consent | Genetics | Informatics | Public health | Personal information | Index Medicus
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7. Full Text Improving the value of clinical research through the use of Common Data Elements
by Sheehan, Jerry and Hirschfeld, Steven and Foster, Erin and Ghitza, Udi and Goetz, Kerry and Karpinski, Joanna and Lang, Lisa and Moser, Richard P and Odenkirchen, Joanne and Reeves, Dianne and Rubinstein, Yaffa and Werner, Ellen and Huerta, Michael
Clinical trials (London, England), ISSN 1740-7745, 12/2016, Volume 13, Issue 6, pp. 671 - 676
interoperability | data standards | data collection | data sharing | Common Data Elements | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | National Institutes of Health (U.S.) | United States | Humans | Biomedical Research | Data Collection | Information Dissemination | Clinical trials | Extensible Business Reporting Language | Index Medicus | Common data elements
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8. Full Text Rare Disease Biospecimens and Patient Registries: Interoperability for Research Promotion, a European Example: EuroBioBank and SpainRDR-BioNER
by Rubinstein, Yaffa R and Posada de la Paz, Manuel and Mora, Marina
12/2017, Advances in Experimental Medicine and Biology, ISBN 9783319671420, Volume 1031
Biospecimens | GUID | Registry | Data sharing | Biological samples | Biobank
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9. Full Text The RD-Connect Registry & Biobank Finder: A tool for sharing aggregated data and metadata among rare disease researchers
by Gainotti, Sabina and Torreri, Paola and Wang, Chiuhui Mary and Reihs, Robert and Mueller, Heimo and Heslop, Emma and Roos, Marco and Badowska, Dorota Mazena and De Paulis, Federico and Kodra, Yllka and Carta, Claudio and Martìn, Estrella Lopez and Miller, Vanessa Rangel and Filocamo, Mirella and Mora, Marina and Thompson, Mark and Rubinstein, Yaffa and Posada De La Paz, Manuel and Monaco, Lucia and Lochmüller, Hanns and Taruscio, Domenica
European journal of human genetics : EJHG, ISSN 1018-4813, 05/2018, Volume 26, Issue 5, pp. 631 - 643
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Rare Diseases - genetics | Rare Diseases - blood | Genomics | Humans | Computational Biology | Metadata | Rare Diseases - epidemiology | Patients | Information Dissemination | Biological Specimen Banks | Biomedical Research | Registries | Databases, Factual | Databases | Researchers | Research | Bioinformatics | Biomaterials | Index Medicus
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10. Full Text International Charter of principles for sharing bio-specimens and data
by Mascalzoni, Deborah and Dove, Edward S and Rubinstein, Yaffa and Dawkins, Hugh J. S and Kole, Anna and McCormack, Pauline and Woods, Simon and Riess, Olaf and Schaefer, Franz and Lochmueller, Hanns and Knoppers, Bartha M and Hansson, Mats
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2015, Volume 23, Issue 6, pp. 721 - 728
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Biological Specimen Banks - organization & administration | Information Dissemination - ethics | International Cooperation - legislation & jurisprudence | Europe | Biological Specimen Banks - legislation & jurisprudence | Information Dissemination - legislation & jurisprudence | Contracts | Policy
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11. Full Text Feeding, eating, and emotional disturbances in children with avoidant/restrictive food intake disorder (Arfid)
by Iron-Segev, Sharon and Best, Danielle and Arad-Rubinstein, Shani and Efron, Martin and Serur, Yaffa and Dickstein, Hadar and Stein, Daniel
Nutrients, 11/2020, Volume 12, Issue 11, pp. 1 - 18
Eating | Screening tool | ARFID | Children | Avoidant/restrictive food intake disorder | Feeding | Life Sciences & Biomedicine | Nutrition & Dietetics | Science & Technology | Index Medicus | avoidant/restrictive food intake disorder | eating | children | diagnostic tool | feeding
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12. Full Text International Charter of principles for sharing bio-specimens and data (vol 23, pg 721, 2015)
by Mascalzoni, Deborah and Dove, Edward S and Rubinstein, Yaffa and Dawkins, Hugh J. S and Kole, Anna and McCormack, Pauline and Woods, Simon and Riess, Olaf and Schaefer, Franz and Lochmuller, Hanns and Knoppers, Bartha M and Hansson, Mats
European journal of human genetics : EJHG, ISSN 1018-4813, 07/2016, Volume 24, Issue 7, pp. 1096 - 1096
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Index Medicus | Corrigendum
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13. Full Text Data Quality in Rare Diseases Registries
by Kodra, Yllka and Posada de la Paz, Manuel and Coi, Alessio and Santoro, Michele and Bianchi, Fabrizio and Ahmed, Faisal and Rubinstein, Yaffa R and Weinbach, Jérôme and Taruscio, Domenica
12/2017, Advances in Experimental Medicine and Biology, ISBN 9783319671420, Volume 1031
Validity | Quality assurance plan | Rare diseases registries | Data quality indicators | Public health registry | Clinical research registry | Guidelines as Topic | Databases, Factual - standards | Health Information Interoperability - standards | Data Accuracy | Registries - standards | Humans | Rare Diseases - diagnosis | Rare Diseases - epidemiology | Rare Diseases - therapy | Biomedical Research - methods | Research Design - standards | Biomedical Research - standards | Quality Control
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14. Full Text Chromosomal protein HMGN1 enhances the acetylation of lysine 14 in histone H3
by Bergel, Michael and Lim, Jae-Hwan and Rubinstein, Yaffa and Bustin, Michael and Postnikov, Yuri V and West, Katherine L
The EMBO journal, ISSN 0261-4189, 09/2005, Volume 24, Issue 17, pp. 3038 - 3048
histone H3 | HMG protein | chromatin | epigenetics | histone acetylation | Epigenetics | Chromatin | Histone acetylation | Histone H3 | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Chromatin - metabolism | p300-CBP Transcription Factors | Acetyltransferases - metabolism | Histone Acetyltransferases | HMGN1 Protein - metabolism | HMGN1 Protein - genetics | Cell Cycle Proteins - metabolism | Cells, Cultured | Gene Expression Regulation | Nucleosomes - metabolism | Transcription Factors - metabolism | Animals | Fibroblasts | Anisomycin - pharmacology | Lysine - metabolism | Mice | Acetylation | Histones - metabolism | Mutation | Protein Synthesis Inhibitors - pharmacology | Index Medicus
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