المؤلفون: Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

المصدر: HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)

مصطلحات موضوعية: USH2A, Usher syndrome, retinitis pigmentosa, usherin, whole genome sequencing, minigene splice assay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000131; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ce

المؤلفون: Maria Abu Elasal, Samira Mousa, Manar Salameh, Anat Blumenfeld, Samer Khateb, Eyal Banin, Dror Sharon

المصدر: Genes, Vol 15, Iss 7, p 926 (2024)

مصطلحات موضوعية: consanguinity, gene panel, inherited retinal diseases, retinal dystrophy, targeted next-generation sequencing, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/7/926; https://doaj.org/toc/2073-4425; https://doaj.org/article/3c418d7a39954c259d1c51099042b06c

الاتاحة: https://doi.org/10.3390/genes15070926
https://doaj.org/article/3c418d7a39954c259d1c51099042b06c

المؤلفون: Alaa Abu-Diab, Prakadeeswari Gopalakrishnan, Chen Matsevich, Marije de Jong, Alexey Obolensky, Ayat Khalaileh, Manar Salameh, Ayala Ejzenberg, Menachem Gross, Eyal Banin, Dror Sharon, Samer Khateb

المصدر: Translational Vision Science & Technology. 12:3

مصطلحات موضوعية: Ophthalmology, Biomedical Engineering

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9742e9074e4c4d90bf8e62d86e471a3d
https://doi.org/10.1167/tvst.12.3.3

المؤلفون: Zelia Corradi, Manar Salameh, Mubeen Khan, Elise Héon, Ketan Mishra, Rebekkah J. Hitti-Malin, Yahya AlSwaiti, Alice Aslanian, Eyal Banin, Brian P. Brooks, Wadih M. Zein, Robert B. Hufnagel, Susanne Roosing, Claire‐Marie Dhaenens, Dror Sharon, Frans P. M. Cremers, Alaa AlTalbishi

المصدر: Investigative Ophthalmology and Visual Science, 63
Investigative Ophthalmology and Visual Science, 63, 4

مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Mutation, Humans, Stargardt Disease, ATP-Binding Cassette Transporters, Cone-Rod Dystrophies, Introns, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Arabs, Pedigree

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a5cfedd16596e1df749c92b9624515d
http://hdl.handle.net/2066/251966

المؤلفون: Hamzah, Aweidah, Manar, Salameh, Claudia, Yahalom, Anat, Blumenfeld, Michal, Macarov, Nicole, Weisschuh, Susanne, Kohl, Eyal, Banin, Dror, Sharon

المصدر: Molecular Vision

مصطلحات موضوعية: Adult, genetic structures, Adolescent, Cyclic Nucleotide-Gated Cation Channels, Infant, Color Vision Defects, eye diseases, Introns, Young Adult, Child, Preschool, Jews, Mutation, Electroretinography, Retinal Cone Photoreceptor Cells, Humans, Child, Tomography, Optical Coherence, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::4922779177dbe4c4d2a5d999a4f3b8f2
https://pubmed.ncbi.nlm.nih.gov/34703197

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