نتائج البحث - "Rebekkah J. Hitti-Malin"

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

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10

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

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

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11

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases

المؤلفون: Rebekkah J, Hitti-Malin, Claire-Marie, Dhaenens, Daan M, Panneman, Zelia, Corradi, Mubeen, Khan, Anneke I, den Hollander, G Jane, Farrar, Christian, Gilissen, Alexander, Hoischen, Maartje, van de Vorst, Femke, Bults, Erica G M, Boonen, Patrick, Saunders, Susanne, Roosing, Frans P M, Cremers

المصدر: Human Mutation, 43, 12, pp. 2234-2250
Human Mutation, 43, 2234-2250

مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetics, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genetics (clinical), Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::101f92e5f8659b4520fa6f6fe2d0dc49
https://repository.ubn.ru.nl/handle/2066/286869

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12

A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog

المؤلفون: Maria Kaukonen, Louise M. Burmeister, Hannes Lohi, Inka Pettinen, Frode Lingaas, David R. Sargan, Rebekkah J. Hitti-Malin, Cathryn S. Mellersh

المساهمون: Burmeister, Louise [0000-0002-6551-055X], Kaukonen, Maria [0000-0002-2146-4694], Pettinen, Inka [0000-0002-7632-3936], Lohi, Hannes [0000-0003-1087-5532], Sargan, David [0000-0001-9897-2489], Apollo - University of Cambridge Repository, Medicum, Hannes Tapani Lohi / Principal Investigator, Veterinary Biosciences, Department of Medical and Clinical Genetics, Helsinki One Health (HOH), Veterinary Genetics, Biosciences, Burmeister, Louise M [0000-0002-6551-055X]

المصدر: Genes, Vol 12, Iss 1771, p 1771 (2021)
Genes
Volume 12
Issue 11
Genes, 12
Genes, 12, 11

مصطلحات موضوعية: Male, BBS2, syndromic, QH426-470, urologic and male genital diseases, MOUSE, 413 Veterinary science, FAMILIES, DISEASE, BBS, Exon, 0302 clinical medicine, Missense mutation, Dog Diseases, Genetics (clinical), Progressive retinal atrophy, Genetics, 0303 health sciences, female genital diseases and pregnancy complications, 3. Good health, Phenotype, Female, hormones, hormone substitutes, and hormone antagonists, circulatory and respiratory physiology, animal structures, PROTEINS, Mutation, Missense, canine, RETINOPATHY, Biology, DIAGNOSIS, 03 medical and health sciences, Dogs, Bardet–Biedl syndrome, LINKED RETINITIS-PIGMENTOSA, medicine, Animals, Genotyping, 030304 developmental biology, Shetland, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Wolves, Whole Genome Sequencing, MUTATIONS, medicine.disease, FRAMEWORK, MODEL, PRA, Shetland Sheepdog, retinal degeneration, Hybridization, Genetic, 030217 neurology & neurosurgery

وصف الملف: text/xml; application/pdf; application/zip

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d134c8c0abadc8d96bff93b8bc221e8a
https://www.repository.cam.ac.uk/handle/1810/330591

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