نتائج البحث - "Karstensen, Helena Gasdal"

1

دورية أكاديمية

Additional file 1 of Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA ...

مصطلحات موضوعية: Genetics, FOS Biological sciences

الإتاحة: https://doi.org/10.6084/m9.figshare.25884951.v110.6084/m9.figshare.2588495110.1097/00006534-198203000-0000210.1038/ng.27210.1093/hmg/ddp00210.1161/circresaha.121.31814510.1016/j.ajhg.2015.11.01110.1126/scitranslmed.aaf116410.1186/s13023-021-01929-810.1055/s-0037-160429610.1053/j.sempedsurg.2014.06.01410.1158/2159-8290.cd-17-032110.1002/humu.2364010.1038/s41436-021-01211-z10.1038/gim.2018.310.1016/j.jmoldx.2016.06.01010.1038/gim.2015.3010.1016/j.jmoldx.2016.10.00210.1038/s41591-019-0479-210.1093/hmg/ddab14410.15252/emmm.202012324Test
https://springernature.figshare.com/articles/journal_contribution/Additional_file_1_of_Assessment_of_gene_disease_associations_and_recommendations_for_genetic_testing_for_somatic_variants_in_vascular_anomalies_by_VASCERN-VASCA/25884951/1Test

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2

دورية أكاديمية

Additional file 1 of Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA ...

مصطلحات موضوعية: Genetics, FOS Biological sciences

الإتاحة: https://doi.org/10.6084/m9.figshare.2588495110.1097/00006534-198203000-0000210.1038/ng.27210.1093/hmg/ddp00210.1161/circresaha.121.31814510.1016/j.ajhg.2015.11.01110.1126/scitranslmed.aaf116410.1186/s13023-021-01929-810.1055/s-0037-160429610.1053/j.sempedsurg.2014.06.01410.1158/2159-8290.cd-17-032110.1002/humu.2364010.1038/s41436-021-01211-z10.1038/gim.2018.310.1016/j.jmoldx.2016.06.01010.1038/gim.2015.3010.1016/j.jmoldx.2016.10.00210.1038/s41591-019-0479-210.1093/hmg/ddab14410.15252/emmm.20201232410.1186/s13023-021-01782-9Test
https://springernature.figshare.com/articles/journal_contribution/Additional_file_1_of_Assessment_of_gene_disease_associations_and_recommendations_for_genetic_testing_for_somatic_variants_in_vascular_anomalies_by_VASCERN-VASCA/25884951Test

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3

دورية أكاديمية

Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

المساهمون: Cliniques Universitaires Saint-Luc Bruxelles, Centre de Génétique Humaine, Université Catholique de Louvain = Catholic University of Louvain (UCL), Department of Molecular Cancer Research, University Medical Center Utrecht (UMCU)-Universiteit Utrecht / Utrecht University Utrecht, Service de Génétique CHU Caen, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Normandie Université (NU)-Normandie Université (NU), Hospital Sant Joan de Déu, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Oslo University Hospital Oslo, Otto-von-Guericke-Universität Magdeburg = Otto-von-Guericke University Magdeburg (OVGU), WELBIO Department, WEL Research Institute, Avenue Pasteur, 6, 1300, Wavre

المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-04586607Test ; Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.213. ⟨10.1186/s13023-024-03196-9⟩.

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: hal-04586607; https://hal.science/hal-04586607Test

الإتاحة: https://doi.org/10.1186/s13023-024-03196-9Test
https://hal.science/hal-04586607Test

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4

دورية أكاديمية

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

المؤلفون: Rendtorff, Nanna Dahl, Karstensen, Helena Gásdal, Lodahl, Marianne, Tolmie, John, McWilliam, Catherine, Bak, Mads, Tommerup, Niels, Nazaryan-Petersen, Lusine, Kunst, Henricus, Wong, Melanie, Joss, Shelagh, Carelli, Valerio, Tranebjærg, Lisbeth

المصدر: Rendtorff , N D , Karstensen , H G , Lodahl , M , Tolmie , J , McWilliam , C , Bak , M , Tommerup , N , Nazaryan-Petersen , L , Kunst , H , Wong , M , Joss , S , Carelli , V & Tranebjærg , L 2022 , ' Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients ' , Scientific Reports , vol. 12 , 14959 . https://doi.org/10.1038/s41598-022-18040-yTest

مصطلحات موضوعية: Clinical genetics, Genetics, Molecular biology

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/d5c671f8-8ef9-475d-a7dc-20829e2d15efTest

الإتاحة: https://doi.org/10.1038/s41598-022-18040-yTest
https://discovery.dundee.ac.uk/en/publications/d5c671f8-8ef9-475d-a7dc-20829e2d15efTest
https://discovery.dundee.ac.uk/ws/files/80227328/s41598_022_18040_y.pdfTest
http://www.scopus.com/inward/record.url?scp=85137170002&partnerID=8YFLogxKTest

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5

دورية أكاديمية

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia

المصدر: Lines , M A , Goldenberg , P , Wong , A , Srivastava , S , Bayat , A , Hove , H , Karstensen , H G , Anyane-Yeboa , K , Liao , J , Jiang , N , May , A , Guzman , E , Morleo , M , D'Arrigo , S , Ciaccio , C , Pantaleoni , C , Castello , R , McKee , S , Ong , J , Zibdeh-Lough , H , Tran-Mau-Them , F , Gerasimenko , A , Heron , D , Keren , B , Margot ....

مصطلحات موضوعية: Genematcher, global developmental delay, intellectual disability, seizures, TRPM3, Epilepsy, Humans, Infant, Newborn, Diseases, Mutation, Missense, Developmental Disabilities/genetics, Whole Exome Sequencing, Intellectual Disability/genetics, Muscle Hypotonia/genetics, TRPM Cation Channels/genetics, Child

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/29c6a551-d9c8-4cf5-a411-163a5cad88c4Test

الإتاحة: https://doi.org/10.1002/ajmg.a.62673Test
https://portal.findresearcher.sdu.dk/da/publications/29c6a551-d9c8-4cf5-a411-163a5cad88c4Test
https://findresearcher.sdu.dk/ws/files/200071127/ajmg.a.62673.pdfTest

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6

دورية أكاديمية

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. ; Am J Med Genet A

مصطلحات موضوعية: Genematcher, Global developmental delay, Intellectual disability, Seizures, TRPM3

العلاقة: https://oskar-bordeaux.fr/handle/20.500.12278/182845Test

الإتاحة: https://doi.org/20.500.12278/182845Test
https://doi.org/10.1002/ajmg.a.62673Test
https://oskar-bordeaux.fr/handle/20.500.12278/182845Test
https://hdl.handle.net/20.500.12278/182845Test

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7

دورية أكاديمية

Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth

المؤلفون: Schönewolf-Greulich, Bitten, Karstensen, Helena Gásdal, Hjortshøj, Tina D., Jørgensen, Finn Stener, Harder, Katja M., Frevert, Susanne, Hove, Hanne, Diness, Birgitte R.

المصدر: Schönewolf-Greulich , B , Karstensen , H G , Hjortshøj , T D , Jørgensen , F S , Harder , K M , Frevert , S , Hove , H & Diness , B R 2022 , ' Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth ' , European Journal of Medical Genetics , vol. 65 , no. 10 , 104590 . https://doi.org/10.1016/j.ejmg.2022.104590Test

مصطلحات موضوعية: Alpelisib, Congenital vascular malformation, Mosaicism, Personalized medicine, PIK3R1, Segmental overgrowth

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.ejmg.2022.104590Test
https://curis.ku.dk/portal/da/publications/early-diagnosis-enabling-precision-medicine-treatment-in-a-young-boy-with-pik3r1related-overgrowthTest(c2f110d8-2f98-433a-9812-4100100e48a6).html
https://curis.ku.dk/ws/files/319806707/1_s2.0_S1769721222001719_main.pdfTest

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8

دورية أكاديمية

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

المؤلفون: Rendtorff, Nanna Dahl, Karstensen, Helena Gásdal, Lodahl, Marianne, Tolmie, John, McWilliam, Catherine, Bak, Mads, Tommerup, Niels, Nazaryan-Petersen, Lusine, Kunst, Henricus, Wong, Melanie, Joss, Shelagh, Carelli, Valerio, Tranebjærg, Lisbeth

المصدر: Rendtorff , N D , Karstensen , H G , Lodahl , M , Tolmie , J , McWilliam , C , Bak , M , Tommerup , N , Nazaryan-Petersen , L , Kunst , H , Wong , M , Joss , S , Carelli , V & Tranebjærg , L 2022 , ' Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients ' , Scientific Reports , vol. 12 , 14959 . https://doi.org/10.1038/s41598-022-18040-yTest

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41598-022-18040-yTest
https://curis.ku.dk/portal/da/publications/identification-and-analysis-of-deletion-breakpoints-in-four-mohrtranebjaerg-syndrome-mts-patientsTest(55c07fb4-76e6-4c50-8ef0-25701ec94ba1).html
https://curis.ku.dk/ws/files/319398027/s41598_022_18040_y.pdfTest

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