المؤلفون: Laura Whelan, Adrian Dockery, Kirk A. J. Stephenson, Julia Zhu, Ella Kopčić, Iris J. M. Post, Mubeen Khan, Zelia Corradi, Niamh Wynne, James J. O’ Byrne, Emma Duignan, Giuliana Silvestri, Susanne Roosing, Frans P. M. Cremers, David J. Keegan, Paul F. Kenna, G. Jane Farrar

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/c46ab88922e84dc084946bcf34d83944

المؤلفون: Ann O’Connell, Julia Zhu, Kirk A.J. Stephenson, Laura Whelan, Adrian Dockery, Jacqueline Turner, James J. O’Byrne, G. Jane Farrar, David Keegan

المصدر: Case Reports in Ophthalmology, Vol 13, Iss 3, Pp 1015-1023 (2022)

مصطلحات موضوعية: retinitis pigmentosa, nanophthalmos, mfrp gene, inherited retinal degeneration, ocular biometry, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/527260; https://doaj.org/toc/1663-2699

URL الوصول: https://doaj.org/article/1a31c0db87b54830859e4e84357d5f1b

المؤلفون: Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S. Cornelis, Carel B. Hoyng, Kati Kämpjärvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stöhr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P.M. Cremers

المصدر: HGG Advances, Vol 4, Iss 4, Pp 100237- (2023)

مصطلحات موضوعية: ABCA4, ABCA4-associated retinopathies, missing heritability, smMIPs sequencing, deep-intronic variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000696; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/a1a8d45cbb204fa082951b43db411a0f

المؤلفون: Zeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, Adrian Dockery, Zelia Corradi, Christian Gilissen, Lonneke Haer-Wigman, Jordi Corominas, Galuh D. N. Astuti, Laura de Rooij, L. Ingeborgh van den Born, Caroline C. W. Klaver, Carel B. Hoyng, Niamh Wynne, Emma S. Duignan, Paul F. Kenna, Frans P. M. Cremers, G. Jane Farrar, Susanne Roosing

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/134ff20611604419a17d57355443d530

المؤلفون: Kirk A. J. Stephenson, Julia Zhu, Niamh Wynne, Adrian Dockery, Rebecca M. Cairns, Emma Duignan, Laura Whelan, Conor P. Malone, Hilary Dempsey, Karen Collins, Shana Routledge, Rajiv Pandey, Elaine Crossan, Jacqueline Turner, James J. O’Byrne, Laura Brady, Giuliana Silvestri, Paul F. Kenna, G. Jane Farrar, David J. Keegan

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Inherited retinal degenerations, Retinal dystrophy, Ocular genetics, Genetic diagnosis, Clinical diagnostic algorithm, Public and patient involvement, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1e2946a4b4e241398534724d3c217c69

المؤلفون: Kirk A. J. Stephenson, Julia Zhu, Adrian Dockery, Laura Whelan, Tomás Burke, Jacqueline Turner, James J. O’Byrne, G. Jane Farrar, David J. Keegan

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 2; Pages: 995

مصطلحات موضوعية: inherited retinal degenerations, retinal dystrophy, genetic testing, next generation sequencing, whole exome sequencing, single gene sequencing, unresolved inherited retinal degenerations

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23020995

الاتاحة: https://doi.org/10.3390/ijms23020995

المؤلفون: Kirk A. J. Stephenson (10753368), Julia Zhu (136722), Niamh Wynne (10753371), Adrian Dockery (10753374), Rebecca M. Cairns (10753377), Emma Duignan (10753380), Laura Whelan (10753383), Conor P. Malone (10753386), Hilary Dempsey (10753389), Karen Collins (2252665), Shana Routledge (10753392), Rajiv Pandey (10753395), Elaine Crossan (10753398), Jacqueline Turner (10753401), James J. O’Byrne (9693965), Laura Brady (10753404), Giuliana Silvestri (39877), Paul F. Kenna (9310388), G. Jane Farrar (9015866), David J. Keegan (10753407)

مصطلحات موضوعية: Genetics, Inherited retinal degenerations, Retinal dystrophy, Ocular genetics, Genetic diagnosis, Clinical diagnostic algorithm, Public and patient involvement

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Target_5000_a_standardized_all-Ireland_pathway_for_the_diagnosis_and_management_of_inherited_retinal_degenerations/14545272

الاتاحة: https://doi.org/10.6084/m9.figshare.14545272.v1

المؤلفون: Kirk A. J. Stephenson (10753368), Julia Zhu (136722), Niamh Wynne (10753371), Adrian Dockery (10753374), Rebecca M. Cairns (10753377), Emma Duignan (10753380), Laura Whelan (10753383), Conor P. Malone (10753386), Hilary Dempsey (10753389), Karen Collins (2252665), Shana Routledge (10753392), Rajiv Pandey (10753395), Elaine Crossan (10753398), Jacqueline Turner (10753401), James J. O’Byrne (9693965), Laura Brady (10753404), Giuliana Silvestri (39877), Paul F. Kenna (9310388), G. Jane Farrar (9015866), David J. Keegan (10753407)

مصطلحات موضوعية: Genetics, Inherited retinal degenerations, Retinal dystrophy, Ocular genetics, Genetic diagnosis, Clinical diagnostic algorithm, Public and patient involvement

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Target_5000_a_standardized_all-Ireland_pathway_for_the_diagnosis_and_management_of_inherited_retinal_degenerations/14545275

الاتاحة: https://doi.org/10.6084/m9.figshare.14545275.v1

المؤلفون: Adrian Dockery, Laura Whelan, Pete Humphries, G. Jane Farrar

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 11; Pages: 5684

مصطلحات موضوعية: genetic diagnosis, inherited retinal disease, rare disease, retina, sequencing, diagnostics, macula, genomics, variant interpretation, eye

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22115684

الاتاحة: https://doi.org/10.3390/ijms22115684

المؤلفون: Laura Whelan, Adrian Dockery, Niamh Wynne, Julia Zhu, Kirk Stephenson, Giuliana Silvestri, Jacqueline Turner, James J. O’Byrne, Matthew Carrigan, Peter Humphries, David Keegan, Paul F. Kenna, G. Jane Farrar

المصدر: Genes; Volume 11; Issue 1; Pages: 105

مصطلحات موضوعية: inherited eye disease, ophthalmic genetics, genomics, next generation sequencing, retinopathy, rare variants, novel variants

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11010105

الاتاحة: https://doi.org/10.3390/genes11010105

المؤلفون: Hilary Dempsey, Paul F. Kenna, Karen Collins, James J. O’Byrne, Laura Whelan, Emma Duignan, Jacqueline Turner, Julia Zhu, Adrian Dockery, Laura Brady, Giuliana Silvestri, Shana Routledge, Rebecca Cairns, Conor Patrick Malone, David J Keegan, Rajiv Pandey, Niamh Wynne, Elaine Crossan, G. Jane Farrar, Kirk Stephenson

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: 0301 basic medicine, Public and patient involvement, Psychological intervention, Clinical diagnostic algorithm, Disease, Bioinformatics, Inherited retinal degenerations, 03 medical and health sciences, 0302 clinical medicine, Retinal Dystrophies, Genotype, Humans, Medicine, Exome, Pharmacology (medical), Letter to the Editor, Genotyping, Genetics (clinical), Whole genome sequencing, business.industry, Ocular genetics, Retinal Degeneration, Retinal dystrophy, General Medicine, Human genetics, Pedigree, Clinical trial, 030104 developmental biology, Genetic diagnosis, Mutation, 030221 ophthalmology & optometry, business, Ireland

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f7da6e17a6d345cfa5e90df0a2118e
https://doaj.org/article/1e2946a4b4e241398534724d3c217c69

المؤلفون: Suzanne E. de Bruijn, Kim Rodenburg, Jordi Corominas, Tamar Ben-Yosef, Janine Reurink, Hannie Kremer, Laura Whelan, Astrid S. Plomp, Wolfgang Berger, G. Jane Farrar, Árpád Ferenc Kovács, Isabelle Fajardy, Rebekkah J. Hitti-Malin, Nicole Weisschuh, Marianna E. Weener, Dror Sharon, Ronald J.E. Pennings, Lonneke Haer-Wigman, Carel B. Hoyng, Marcel R. Nelen, Lisenka E.L.M. Vissers, L. Ingeborgh van den Born, Christian Gilissen, Frans P.M. Cremers, Alexander Hoischen, Kornelia Neveling, Susanne Roosing

المساهمون: Human Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Genetics in medicine. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 3
Genetics in Medicine. Lippincott Williams and Wilkins
de Bruijn, S E, Rodenburg, K, Corominas, J, Ben-Yosef, T, Reurink, J, Kremer, H, Whelan, L, Plomp, A S, Berger, W, Farrar, G J, Ferenc Kovács, Á, Fajardy, I, Hitti-Malin, R J, Weisschuh, N, Weener, M E, Sharon, D, Pennings, R J E, Haer-Wigman, L, Hoyng, C B, Nelen, M R, Vissers, L E L M, van den Born, L I, Gilissen, C, Cremers, F P M, Hoischen, A, Neveling, K & Roosing, S 2022, ' Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes ', Genetics in Medicine . https://doi.org/10.1016/j.gim.2022.11.013
Genetics in Medicine, 25
Genetics in Medicine, 25 (3)

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Inherited retinal diseases, Optical genome mapping, Next-generation sequencing, Short-read genome sequencing, Structural variants, Other Research Radboud Institute for Health Sciences [Radboudumc 0], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genetics (clinical)

وصف الملف: application/pdf; application/application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2799d9614b7c6535f6ff4084263d2eb2
https://pure.amc.nl/en/publications/optical-genome-mapping-and-revisiting-shortread-genome-sequencing-data-reveal-previously-overlooked-structural-variants-disrupting-retinal-diseaseassociated-genes(b2b88fa0-a4a9-41a9-b28f-bcd99c6a5e7e).html

المؤلفون: Hedwig M. Velde, Janine Reurink, Sebastian Held, Catherina H. Z. Li, Suzanne Yzer, Jaap Oostrik, Jack Weeda, Lonneke Haer-Wigman, Helger G. Yntema, Susanne Roosing, Laurenz Pauleikhoff, Clemens Lange, Laura Whelan, Adrian Dockery, Julia Zhu, David J. Keegan, G. Jane Farrar, Hannie Kremer, Cornelis P. Lanting, Markus Damme, Ronald J. E. Pennings

المصدر: Human Genetics, 141, 11, pp. 1723-1738
Human Genetics, 141, 1723-1738

مصطلحات موضوعية: otorhinolaryngologic diseases, Genetics, Humans, Mutant Proteins, Sulfatases, Usher Syndromes, Genetics (clinical), Retinitis Pigmentosa, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Arylsulfatases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06cf4ad4fff1a689f51e7f408ecfb9b4
https://repository.ubn.ru.nl/handle/2066/287277

المؤلفون: Jordi Corominas, Laura Whelan, Gwyneth Jane Farrar, Frans P.M. Cremers, Catherina H Z Li, Paul F. Kenna, Susanne Roosing, Carel B. Hoyng, Adrian Dockery, Roly Megaw, Charlie Rowlands, Zeinab Fadaie, L. Ingeborgh van den Born, Christian Gilissen, Jamie M Ellingford, AK Lampe

المصدر: Journal of Medical Genetics, 59, 438-444
Journal of Medical Genetics, 59, 5, pp. 438-444

مصطلحات موضوعية: 0301 basic medicine, Genetics, Proband, BBS1, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Biology, medicine.disease, Compound heterozygosity, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, Exon, 030104 developmental biology, 0302 clinical medicine, Retinitis pigmentosa, medicine, Missense mutation, splice, Gene, 030217 neurology & neurosurgery, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bbe0c9a9179a55b8e5062f89977d11a
http://hdl.handle.net/2066/251508

المؤلفون: Christian Gilissen, Galuh D.N. Astuti, G. Jane Farrar, Tamar Ben-Yosef, Susanne Roosing, Adrian Dockery, Zeinab Fadaie, Lonneke Haer-Wigman, Laura de Rooij, Niamh Wynne, Carel B. Hoyng, Laura Whelan, Frans P.M. Cremers, Emma Duignan, Paul F. Kenna, Jordi Corominas, Caroline C W Klaver, Zelia Corradi, L. Ingeborgh van den Born

المساهمون: Ophthalmology, Epidemiology

المصدر: NPJ Genomic Medicine
NPJ Genomic Medicine, 6
npj Genomic Medicine, 6(1):97. Nature Publishing Group
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)
NPJ Genomic Medicine, 6, 1

مصطلحات موضوعية: PRPF31, RNA splicing, In silico, QH426-470, Biology, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Genetics, medicine, Coding region, splice, Molecular Biology, Gene, Genetics (clinical), 030304 developmental biology, Genetic testing, Whole genome sequencing, 0303 health sciences, medicine.diagnostic_test, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Retinal diseases, 3. Good health, 030221 ophthalmology & optometry, Next-generation sequencing, Medicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05f7ca04291b6eef625407ab6e6127d5
http://europepmc.org/articles/PMC8602293

المؤلفون: Ymkje M. Hettinga, Karsten Hufendiek, Jacek P. Szaflik, Ian M. MacDonald, Isabelle Meunier, Marcela D. Mena, Kaoru Fujinami, Mubeen Khan, Eyal Banin, Elfride De Baere, G. Jane Farrar, Adrian Dockery, Rianne Miller, Tamar Ben-Yosef, Manar Salameh, L. Ingeborgh van den Born, Anna M Tracewska, Sandro Banfi, Caroline C W Klaver, John N. De Roach, Carmen Ayuso, Sabine Defoort, Damjan Glavač, Ulrich Kellner, Juliana Maria Ferraz Sallum, Claire-Marie Dhaenens, Stéphanie S. Cornelis, Bernhard H. F. Weber, Klaus Rüther, Jennifer A. Thompson, Bernard Puech, Raj Ramesar, Aurore Devos, Lisa Roberts, Herbert Jägle, Osvaldo L. Podhajcer, Hadas Newman, Bohdan Kousal, Femke Bults, Marta Del Pozo-Valero, Marc Pieterse, Laura Whelan, Xavier Zanlonghi, Alaa AlTalbishi, Francesca Simonelli, Marloes Steehouwer, Caroline Thuillier, Frans P.M. Cremers, Andrea L Vincent, Smaragda Kamakari, Ana Fakin, Anna Matynia, Dror Sharon, Ketan Mishra, Mariana Vallim Salles, Heidi Stöhr, Miriam Bauwens, Petra Liskova, Esmee H. Runhart, Buhle Ntozini, Georg Spital, Carel B. Hoyng, Takaaki Hayashi, Terri L. McLaren, Martine van Zweeden, Lubica Dudakova, Camiel J. F. Boon, Christian Gilissen, Jacquie Greenberg, Monika Ołdak, Tina M. Lamey, Yahya AlSwaiti, Alexander Hoischen, Marianthi Karali, Michael B. Gorin

المساهمون: Ophthalmology, ANS - Complex Trait Genetics, Khan, Mubeen, Cornelis, Stéphanie S, Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H, Mishra, Ketan, Bults, Femke, Alswaiti, Yahya, Altalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J F, van den Born, L Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B, Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M, Hoischen, Alexander, Hoyng, Carel B, Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C W, Kousal, Bohdan, Lamey, Tina M, Macdonald, Ian M, Matynia, Anna, Mclaren, Terri L, Mena, Marcela D, Meunier, Isabelle, Miller, Rianne, Newman, Hada, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L, Puech, Bernard, Ramesar, Raj, Rüther, Klau, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloe, Szaflik, Jacek P, Thompson, Jennifer A, Thuillier, Caroline, Tracewska, Anna M, van Zweeden, Martine, Vincent, Andrea L, Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, Roach, John N De, Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H F, Dhaenens, Claire-Marie, Cremers, Frans P M

المصدر: Genetics in Medicine
Genetics in medicine, 22(7), 1235-1246. Lippincott Williams and Wilkins
Genetics in Medicine, 22, 7, pp. 1235-1246
GENETICS IN MEDICINE
Genetics in Medicine, 22(7), 1235-1246. Lippincott Williams & Wilkins
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Genetics in Medicine, 22(7), 1235-1246. NATURE PUBLISHING GROUP
Genetics in Medicine, 22, 1235-1246

مصطلحات موضوعية: DEEP-INTRONIC VARIANTS, Proband, smMIP, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], ABCA4, RPE65, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Macular Degeneration, Exon, 0302 clinical medicine, Missing heritability problem, purl.org/becyt/ford/3.2 [https], Medicine and Health Sciences, smMIPs, MUTATION, Genetics (clinical), Genetics, variants, 0303 health sciences, structural, biology, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, DYSTROPHY, Pedigree, 3. Good health, Stargardt disease, MATERNAL UNIPARENTAL ISODISOMY, purl.org/becyt/ford/3 [https], RETINAL, CHROMOSOME-1, PATIENT, STRUCTURAL VARIANTS, Deep sequencing, 03 medical and health sciences, SDG 3 - Good Health and Well-being, deep-intronic variants, REVEALS, medicine, Humans, 030304 developmental biology, REPAIR, deep-intronic variant, structural variants, medicine.disease, GENE, Introns, Uniparental Isodisomy, Mutation, 030221 ophthalmology & optometry, biology.protein, ATP-Binding Cassette Transporters, Transcriptome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e3bc891c1991aee449da207a212dba0

المؤلفون: Carel B. Hoyng, Yahya AlSwaiti, Lubica Dudakova, Alexander Hoischen, Lisa Roberts, Christian Gilissen, Michael B. Gorin, Marc Pieterse, Isabelle Meunier, Damjan Glavač, Jacek P. Szaflik, Andrea L Vincent, Dror Sharon, Xavier Zanlonghi, Martine van Zweeden, Monika Ołdak, Bernard Puech, Camiel J. F. Boon, Femke Bults, Anna M. Tracewska, Marloes Steehouwer, Caroline C W Klaver, Jacquie Greenberg, Hadas Newman, Bohdan Kousal, Miriam Bauwens, Bernard H.F. Weber, Smaragda Kamakari, G. Jane Farrar, Eyal Banin, Elfride De Baere, Jennifer A. Thompson, Adrian Dockery, Marcela D. Mena, Tamar Ben-Yosef, Manar Salameh, Laura Whelan, Tina M. Lamey, L. Ingeborgh van den Born, Ana Fakin, Frans P.M. Cremers, Klaus Rüther, Buhle Ntozini, Sandro Banfi, Claire-Marie Dhaenens, Raj Ramesar, Georg Spital, Osvaldo L. Podhajcer, Heidi Stöhr, Ulrich Kellner, Esmee H. Runhart, Herbert Jägle, John N. De Roach, Kaoru Fujinami, Marta Del Pozo-Valero, Takaaki Hayashi, Juliana Maria Ferraz Sallum, Petra Liskova, Terri L. McLaren, Karsten Hufendiek, Marianthi Karali, Stéphanie S. Cornelis, Sabine Defoort, Ymkje M. Hettinga, Francesca Simonelli, Alaa AlTabishi, Mubeen Khan, Caroline Thuillier, Anna Matynia, Carmen Ayuso, Ketan Mishra, Mariana Vallim Salles, Ian M. MacDonald, Aurore Devos, Rianne Miller

مصطلحات موضوعية: Genetics, 0303 health sciences, Sequence analysis, Genomics, Biology, medicine.disease, DNA sequencing, Stargardt disease, 03 medical and health sciences, Exon, 0302 clinical medicine, Missing heritability problem, 030221 ophthalmology & optometry, medicine, Coding region, Gene, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e07f399c9d8c1ee433e6af3c48b541

المساهمون: Laura Whelan (Reporter), Anne Doyle (Newsreader)

الاتاحة: http://data.europeana.eu/aggregation/europeana/2051943/data_euscreenXL_EUS_CA96FE85339A431B8E1A46A617300E80

المؤلفون: Laura Whelan

المصدر: Daily Mail; 7/28/2010, p26, 1p

المؤلفون: Laura Whelan

المصدر: Daily Mail; 7/6/2010, p8, 1p