المؤلفون: Alvilda H. Steensberg, Lasse Malmqvist, Mette Bertelsen, Line Kessel, Karen Grønskov, Steffen Hamann

المصدر: Frontiers in Ophthalmology, Vol 4 (2024)

مصطلحات موضوعية: optic disc drusen (ODD), retinitis pigmentosa, optic nerve head drusen, retinal nerve fiber layer (RNFL), retinal nerve fiber layer thickness (RNFLT), Medicine

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fopht.2024.1476911/full; https://doaj.org/toc/2674-0826

URL الوصول: https://doaj.org/article/bd00599707124c799b75fc879afc9054

المؤلفون: Mette Kjøbæk Gundestrup Andersen, Mette Bertelsen, Karen Grønskov, Susanne Kohl, Line Kessel

المصدر: Genes; Volume 14; Issue 3; Pages: 690

مصطلحات موضوعية: Achromatopsia, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes14030690

الاتاحة: https://doi.org/10.3390/genes14030690

المؤلفون: Kristian Lisbjerg, Karen Grønskov, Mette Bertelsen, Lisbeth Birk Møller, Line Kessel

المصدر: Genes; Volume 14; Issue 2; Pages: 435

مصطلحات موضوعية: retinitis pigmentosa, RP11, PRPF31, non-penetrance, MSR1, CNOT3, gene expression

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Epigenomics; https://dx.doi.org/10.3390/genes14020435

الاتاحة: https://doi.org/10.3390/genes14020435

المؤلفون: Louise Sloth Kodal, Sophia Hammer-Hansen, Sonja Holm-Yildiz, Karen Grønskov, Helena Gásdal Karstensen, Tina Dysgaard

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: hereditary neuropathy, whole exome sequencing, polyneuropathy, optic atrophy, case report, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1066040/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/0f26ba34d65b4f38b75f5e321736ad08

المؤلفون: Mette Levinsen, Malene Landbo Børresen, Laura Roos, Karen Grønskov, Line Kessel

المصدر: BMC Ophthalmology, Vol 21, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Infant, Delayed visual maturation, Infants, Nystagmus, Poor eye contact, Vision, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/e7b64f67190c43b0bbcfd9b72493bd3b

المؤلفون: Graeme C. Black, Panagiotis Sergouniotis, Andrea Sodi, Bart P. Leroy, Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, Gita Taurina, Marius Sukys, Lonneke Haer-Wigman, Katarzyna Nowomiejska, João Pedro Marques, Dorothée Leroux, Frans P. M. Cremers, Elfride De Baere, Hélène Dollfus, ERN-EYE study group

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

مصطلحات موضوعية: Genetic and genomic testing, Rare eye diseases, ERN-EYE, Position statement, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/31fb6bd059a046fc9ea6edd2145032da

المؤلفون: Alvilda Steensberg, Lasse Malmqvist, Mette Bertelsen, Karen Grønskov, Steffen Hamann

المصدر: 2024 North American Neuro-Ophthalmology Society Annual Meeting

مصطلحات موضوعية: Diagnostic Tests (ERG, VER, OCT, HRT, mfERG, etc)

وصف الملف: application/pdf

Relation: NANOS Annual Meeting 2024: Poster Session: Descriptive Studies I: Disorders of the Anterior Visual Pathway (Retina, Optic Nerve, and Chiasm); Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/; 20240303_nanos_posters_204; https://collections.lib.utah.edu/ark:/87278/s62n5qk9

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s62n5qk9

المؤلفون: Mette Levinsen (11659603), Malene Landbo Børresen (11659606), Laura Roos (3070896), Karen Grønskov (710517), Line Kessel (366309)

مصطلحات موضوعية: Medicine, Cell Biology, Sociology, Science Policy, Infant, Delayed visual maturation, Infants, Nystagmus, Poor eye contact, Vision

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Causes_of_poor_eye_contact_in_infants_a_population-based_study/16946341

الاتاحة: https://doi.org/10.6084/m9.figshare.16946341.v1

المؤلفون: Mette Levinsen (11659603), Malene Landbo Børresen (11659606), Laura Roos (3070896), Karen Grønskov (710517), Line Kessel (366309)

مصطلحات موضوعية: Medicine, Cell Biology, Sociology, Science Policy, Infant, Delayed visual maturation, Infants, Nystagmus, Poor eye contact, Vision

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Causes_of_poor_eye_contact_in_infants_a_population-based_study/16946344

الاتاحة: https://doi.org/10.6084/m9.figshare.16946344.v1

المؤلفون: Mette Levinsen (11659603), Malene Landbo Børresen (11659606), Laura Roos (3070896), Karen Grønskov (710517), Line Kessel (366309)

مصطلحات موضوعية: Medicine, Cell Biology, Sociology, Science Policy, Infant, Delayed visual maturation, Infants, Nystagmus, Poor eye contact, Vision

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_Causes_of_poor_eye_contact_in_infants_a_population-based_study/16946347

الاتاحة: https://doi.org/10.6084/m9.figshare.16946347.v1

المؤلفون: Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 3; Pages: 1345

مصطلحات موضوعية: BBS, WNT, hedgehog-signaling, ciliogenesis, SMO, induced pluripotent stem cell, RPE, RPE65

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Biochemistry; https://dx.doi.org/10.3390/ijms22031345

الاتاحة: https://doi.org/10.3390/ijms22031345

المؤلفون: Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller

المصدر: Stem Cell Research, Vol 33, Iss , Pp 46-50 (2018)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506118302332; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/abd4f7f3df094583b820fdf661d242c2

المؤلفون: Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller

المصدر: Stem Cell Research, Vol 31, Iss , Pp 235-239 (2018)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506118301971; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/5f0502619a3b460c9cd667a6b9ed278c

المؤلفون: Line Kessel, Mette Bertelsen, Karen Grønskov

المصدر: Ophthalmic Genetics. 43:876-881

مصطلحات موضوعية: Ophthalmology, Pediatrics, Perinatology and Child Health, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::582e732b09e5cab443d28e16415feba6
https://doi.org/10.1080/13816810.2022.2141789

المؤلفون: Kristian Lisbjerg, Mette Bertelsen, Julie Lyng Forman, Karen Grønskov, Josephine Prener Holtan, Line Kessel

المصدر: Ophthalmic Genetics. 44:139-146

مصطلحات موضوعية: Ophthalmology, Pediatrics, Perinatology and Child Health, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12eb841849ceb8d189a7823eb7ea7b19
https://doi.org/10.1080/13816810.2022.2123006

المؤلفون: Cathrine Jespersgaard, Mette Bertelsen, Farah Arif, Helene Gry Gellert-Kristensen, Mingyan Fang, Hanne Jensen, Thomas Rosenberg, Zeynep Tümer, Lisbeth Birk Møller, Karen Brøndum-Nielsen, Karen Grønskov

المصدر: Genes; Volume 11; Issue 12; Pages: 1517

مصطلحات موضوعية: retinitis pigmentosa, MERTK, CNV

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11121517

الاتاحة: https://doi.org/10.3390/genes11121517

المؤلفون: Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller

المصدر: Stem Cell Research, Vol 41, Iss , Pp - (2019)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506119302247; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/226d3f57ae254eb5a2934bb72beca7d3

المؤلفون: Ulrik Kristoffer Stoltze, Mathis Hildonen, Thomas Van Overeem Hansen, Jon Foss-Skiftesvik, Anna Byrjalsen, Malene Lundsgaard, Laura Pignata, Karen Grønskov, Asuman Z Tumer, Kjeld Schmiegelow, Jesper Sune Brok, Karin A W Wadt

المصدر: Stoltze, U K, Hildonen, M, Hansen, T V O, Foss-Skiftesvik, J, Byrjalsen, A, Lundsgaard, M, Pignata, L, Grønskov, K, Tumer, A Z, Schmiegelow, K, Brok, J S & Wadt, K A W 2023, ' Germline (epi)genetics reveals high predisposition in females : a 5-year, nationwide, prospective Wilms tumour cohort ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-108982

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51a1ba43d3f730b43d1c0cda88fb5d16
https://vbn.aau.dk/da/publications/fd07e57e-1ff3-4d35-988f-acaaa74ae55c

المؤلفون: Alvilda Steensberg, Lasse Malmqvist, Line Kessel, Mette Bertelsen, Karen Grønskov, Steffen Hamann

المصدر: 2023 North American Neuro-Ophthalmology Society Annual Meeting

مصطلحات موضوعية: Diagnostic Tests (ERG, VER, OCT, HRT, mfERG, etc), Genetic Disease, Optic Neuropathy

وصف الملف: application/pdf

Relation: NANOS Annual Meeting 2023: Poster Session II: Disorders of the Anterior Visual Pathway (Retina, Optic Nerve, and Chiasm); Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu; 20230312_nanos_posters_235; https://collections.lib.utah.edu/ark:/87278/s6p442ve

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s6p442ve

المؤلفون: Ulrik Kristoffer Stoltze, Thomas Van Overeem Hansen, Jesper Sune Brok, Karen Grønskov, Asuman Z Tumer, Lise Barlebo Ahlborn, Kjeld Schmiegelow, Karin A W Wadt

المصدر: Stoltze, U K, Hansen, T V O, Brok, J S, Gronskov, K, Tumer, A Z, Ahlborn, L B, Schmiegelow, K & Wadt, K A W 2023, ' Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes ', Journal of Medical Genetics, vol. 60, no. 2, 108335, pp. 128-130 . https://doi.org/10.1136/jmedgenet-2021-108335

مصطلحات موضوعية: pediatrics, epigenomics, Genetics, genomics, sequence deletion, medical oncology, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4b16c05a8bc7503e0bb81394609c773
https://curis.ku.dk/ws/files/338062074/128.full.pdf