المؤلفون: Guillaume, Olivier, Philippe, Brabet, Nelly, Pirot, Morgane, Broyon, Laurent, Guillou, Chantal, Cazevieille, Chamroeun, Sar, Melanie, Quiles, Emmanuelle, Sarzi, Marie, Pequignot, Ervann, Andreo, Agathe, Roubertie, Isabelle, Meunier, Agnès, Muller, Vasiliki, Kalatzis, Gaël, Manes

المصدر: Genes. 13(9)

مصطلحات موضوعية: Extracellular Matrix Proteins, Mice, Retinaldehyde, Animals, Photoreceptor Cells, Proteoglycans, Retinal Pigment Epithelium, Eye Proteins, Retinal Pigments, Retinitis Pigmentosa, Extracellular Matrix, Vitelliform Macular Dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e53d5c5912a87e14472f5d717aa1cf96Test
https://pubmed.ncbi.nlm.nih.gov/36140676Test

المؤلفون: Guillaume Olivier, Philippe Brabet, Nelly Pirot, Morgane Broyon, Laurent Guillou, Chantal Cazevieille, Chamroeun Sar, Melanie Quiles, Emmanuelle Sarzi, Marie Pequignot, Ervann Andreo, Agathe Roubertie, Isabelle Meunier, Agnès Muller, Vasiliki Kalatzis, Gaël Manes

المصدر: Genes; Volume 13; Issue 9; Pages: 1508

مصطلحات موضوعية: IMPG1, IMPG2, SPACR, SPACRCAN, vitelliform macular dystrophy, retinitis pigmentosa, Genetics, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8acda4a5836cac01d3627f3573468d60Test
https://doi.org/10.3390/genes13091508Test

المؤلفون: Galuh D. N. Astuti, L. Ingeborgh van den Born, M. Imran Khan, Christian P. Hamel, Béatrice Bocquet, Gaël Manes, Mathieu Quinodoz, Manir Ali, Carmel Toomes, Martin McKibbin, Mohammed E. El-Asrag, Lonneke Haer-Wigman, Chris F. Inglehearn, Graeme C. M. Black, Carel B. Hoyng, Frans P. M. Cremers, Susanne Roosing

المصدر: Genes, Vol 9, Iss 1, p 21 (2018)

مصطلحات موضوعية: whole exome sequencing, inherited retinal diseases, candidate retinal disease genes, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.mdpi.com/2073-4425/9/1/21Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/62888b7ff2e64a29baaef9fe89864e05Test

المؤلفون: Olivier, Guillaume, Brabet, Philippe, Pirot, Nelly, Broyon, Morgane, Guillou, Laurent, Cazevieille, Chantal, Sar, Chamroeun, Quiles, Melanie, Sarzi, Emmanuelle, Pequignot, Marie, Andreo, Ervann, Roubertie, Agathe, Meunier, Isabelle, Muller, Agnès, Kalatzis, Vasiliki, Manes, Gaël

المصدر: Genes; Sep2022, Vol. 13 Issue 9, p1508-1508, 14p

مصطلحات موضوعية: RHODOPSIN, PHOTORECEPTORS, RETINAL diseases, MACULAR degeneration, OPTICAL coherence tomography, RETINITIS pigmentosa, TRANSMISSION electron microscopy

المؤلفون: Lonneke Haer-Wigman, Chris F. Inglehearn, L. Ingeborgh van den Born, Manir Ali, Susanne Roosing, M Imran Khan, Frans P.M. Cremers, Graeme C.M. Black, Galuh D.N. Astuti, Carmel Toomes, Béatrice Bocquet, Carel B. Hoyng, Martin McKibbin, Mathieu Quinodoz, Gaël Manes, Mohammed E El-Asrag, Christian P. Hamel

المساهمون: Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université de Montpellier (UM), Service d'Ophtalmologie [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Guy de Chauliac, Centre de référence des affections sensorielles d'origine génétique, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui De Chaulliac

المصدر: Genes, vol. 9, no. 1, pp. E21
Genes, 9,
Genes
Astuti, G D N, van den Born, L I, Khan, M I, Hamel, C P, Bocquet, B, Manes, G, Quinodoz, M, Ali, M, Toomes, C, McKibbin, M, El-Asrag, M E, Haer-Wigman, L, Inglehearn, C F, Black, G C M, Hoyng, C B, Cremers, F P M & Roosing, S 2018, ' Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes ', Genes, vol. 9, no. 1, 21 . https://doi.org/10.3390/genes9010021Test
Genes; Volume 9; Issue 1; Pages: 21
Genes, 9, 1, pp.
Genes, Vol 9, Iss 1, p 21 (2018)
Genes, MDPI, 2018, 9 (1), ⟨10.3390/genes9010021⟩

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, lcsh:QH426-470, inherited retinal diseases, [SDV]Life Sciences [q-bio], Biology, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, whole exome sequencing, candidate retinal disease genes, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Inherited retinal diseases, parasitic diseases, Genetics, Exome, Gene, Genetics (clinical), Exome sequencing, Candidate retinal disease genes, Genetic heterogeneity, Whole exome sequencing, Disease gene identification, Minor allele frequency, lcsh:Genetics, 030104 developmental biology, Small nuclear ribonucleoprotein

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a8cb3c20f06ee03767cc33947558cfTest
https://hdl.handle.net/2066/183881Test

المؤلفون: Astuti, Galuh D. N., van den Born, L. Ingeborgh, Khan, M. Imran, Hamel, Christian P., Bocquet, Béatrice, Manes, Gaël, Quinodoz, Mathieu, Ali, Manir, Toomes, Carmel, McKibbin, Martin, El-Asrag, Mohammed E., Haer-Wigman, Lonneke, Inglehearn, Chris F., Black, Graeme C. M., Hoyng, Carel B., Cremers, Frans P. M., Roosing, Susanne

المصدر: Genes; Jan2018, Vol. 9 Issue 1, p21, 16p

مصطلحات موضوعية: RETINAL diseases, EXOMES, PHENOTYPES, GENETIC mutation, GENE mapping, GENETICS