المؤلفون: Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101476- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774424006228Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/fd7a496fb21447cda656ca8034d9483aTest

المؤلفون: Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100498- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423004983Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/33db357776d94cb5babd1aacc95aaecdTest

المؤلفون: Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm

المساهمون: Wellcome Trust, British Heart Foundation

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)

مصطلحات موضوعية: Genetics & Heredity, GenCC, 0604 Genetics, Genetic Variation, 1103 Clinical Sciences, Genomics, Gene curation, Database, Genetic diagnosis, The Gene Curation Coalition, Databases, Genetic, Humans, Genetic Testing, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db382453c45f9da4d860229092aac16cTest
https://pubmed.ncbi.nlm.nih.gov/35507016Test

المؤلفون: Arina Puzriakova, Charlotte Rodwell, Kelly Radtke, Alison J. Coffey, Fiona Cunningham, Angharad M. Roberts, Sarah Leigh, Joanna S. Amberger, Erin Rooney Riggs, Ana Rath, Christina Austin Tse, Michael Yates, Marina T. DiStefano, Ada Hamosh, James S. Ware, Annie Olry, Jennifer L. Goldstein, Carol Bocchini, Eleanor Williams, Catherine E. Snow, Christa Lese Martin, Scott R. Goehringer, Heidi L. Rehm, Matthew E. Hurles, David R. FitzPatrick, Ivone U. S. Leong, Elspeth A. Bruford, Ellen M. McDonagh, Jackie Tahiliani, Helen V. Firth, Zornitza Stark, Caroline F. Wright, Ewan Birney, Jonathan S. Berg, Erin M. Ramos, Marie Balzotti, Heather Collins

المصدر: Molecular Genetics and Metabolism. 132:S224-S225

مصطلحات موضوعية: World Wide Web, Endocrinology, Computer science, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b37573c9f691c96fec532f4214337271Test
https://doi.org/10.1016/s1096-7192Test(21)00430-3

المؤلفون: Ana Rath, Annie Olry, Yann Le Cam, Deborah M. Lambert, Charlotte Rodwell

المصدر: Eur J Hum Genet

مصطلحات موضوعية: business.industry, Correspondence, Genetics, Medicine, business, Humanities, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72daee54884339eed6168019d8e194e6Test
https://doi.org/10.1038/s41431-020-00764-yTest

المؤلفون: Michael Brudno, Ana Rath, Helen Parkinson, Tudor Groza, Marc Hanauer, Sebastian Köhler, Simon Jupp, Charlotte Rodwell, Dominik Seelow, Halima Lourghi, Sylvie Maiella, Valérie Lanneau, Annie Olry, Peter N. Robinson, Bruno Donadille

المصدر: European journal of medical genetics. 61(11)

مصطلحات موضوعية: 0301 basic medicine, Databases, Factual, Interoperability, Computational Biology, Biological Ontologies, General Medicine, Ontology (information science), Data science, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Resource (project management), Phenomics, Phenotype, Rare Diseases, Controlled vocabulary, Human Phenotype Ontology, Genetics, Humans, Exome, 030217 neurology & neurosurgery, Genetics (clinical), Software

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2dc2a69fbea71a1ff99ef711eb99e86Test
https://pubmed.ncbi.nlm.nih.gov/29425702Test

المؤلفون: Charlotte, Rodwell, Ségolène, Aymé

المصدر: Biochimica et biophysica acta. 1852(10 Pt)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::a0ba6ea5f9d50d00553eae41eb9a748cTest
https://pubmed.ncbi.nlm.nih.gov/25725454Test

المؤلفون: Ségolène Aymé, Charlotte Rodwell

المساهمون: Plateforme d'information et de services pour les maladies rares et les médicaments orphelins (Orphanet), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Broussais-Institut National de la Santé et de la Recherche Médicale (INSERM), The work of the Scientific Secretariat of the European Union Committee of Experts on Rare Diseases was financed by two consecutive Joint Actions between Member States from the European Commission's Executive Agency for Health and Consumers: the Scientific Secretariat of the European Union Committee of Rare Diseases Joint Action N° 2008 22 91 and European Union Committee of Rare Diseases Joint Action: Working for Rare Diseases N° 2011 22 01., BMC, Ed.

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.30. ⟨10.1186/1750-1172-9-30⟩

مصطلحات موضوعية: media_common.quotation_subject, Patient registries, Centres of expertise, [SDV.GEN] Life Sciences [q-bio]/Genetics, Public administration, Recommendations, Rare Diseases, Political science, National plans/strategies for rare diseases, European reference networks, Humans, media_common.cataloged_instance, European commission, Genetics(clinical), Pharmacology (medical), Access to orphan medicinal products, European Union, European union, Genetics (clinical), media_common, Medicine(all), [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Environmental resource management, European policy, General Medicine, Expert group, 3. Good health, Editorial, Work (electrical), Service (economics), Mandate, business, Rare disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae400a7692cadf590628d8671364996aTest
https://www.hal.inserm.fr/inserm-00955666/file/1750-1172-9-30.pdfTest

المؤلفون: Ségolène Aymé, Charlotte Rodwell, Kate Bushby

المساهمون: Comité d'Experts Maladies Rares de l'Union Européenne (EUCERD), Institut National de la Santé et de la Recherche Médicale (INSERM), Network of Excellence TREAT-NMD, International Centre for Life-Institute of Human Genetics-University of Northumbria at Newcastle [United Kingdom], BMC, Ed.

المصدر: Orphanet Journal of Rare Diseases
6th European Conference on Rare Diseases and Orphan Products
6th European Conference on Rare Diseases and Orphan Products, May 2012, France. pp.A5
Orphanet Journal of Rare Diseases, Vol 7, Iss Suppl 2, p A5 (2012)

مصطلحات موضوعية: medicine.medical_specialty, lcsh:Medicine, [SDV.GEN] Life Sciences [q-bio]/Genetics, Disease, Haemophilia, 03 medical and health sciences, 0302 clinical medicine, 0504 sociology, Intellectual disability, Health care, medicine, media_common.cataloged_instance, Pharmacology (medical), 030212 general & internal medicine, European union, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), media_common, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, lcsh:R, 05 social sciences, 050401 social sciences methods, General Medicine, medicine.disease, Fabry disease, 3. Good health, Family medicine, Meeting Abstract, Hereditary Diseases, business, Rare disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::714a3fc1a00f63eb2e0b6536fbdcf6cbTest
https://doi.org/10.1186/1750-1172-7-s2-a5Test

المؤلفون: Charlotte Rodwell, Ségolène Aymé

المصدر: Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Medicine(all), Economic growth, business.industry, media_common.quotation_subject, Social Welfare, General Medicine, Commission, Negotiation, Alliance, State (polity), Political science, Poster Presentation, Health care, media_common.cataloged_instance, Genetics(clinical), Pharmacology (medical), European union, business, Genetics (clinical), media_common, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::053f1db04c07cfbce2072df0b3a9ce12Test
https://doi.org/10.1186/1750-1172-9-s1-p13Test