Zobrazeno 1 - 10
of 139
pro vyhledávání: '"Ruth Richardson"'
Autor:
Hang Lyu, Christian M. Boßelmann, Katrine M. Johannesen, Mahmoud Koko, Juan Dario Ortigoza-Escobar, Sergio Aguilera-Albesa, Deyanira Garcia-Navas Núñez, Tarja Linnankivi, Eija Gaily, Henriette J.A. van Ruiten, Ruth Richardson, Cornelia Betzler, Gabriella Horvath, Eva Brilstra, Niels Geerdink, Daniele Orsucci, Alessandra Tessa, Elena Gardella, Zofia Fleszar, Ludger Schöls, Holger Lerche, Rikke S. Møller, Yuanyuan Liu
Publikováno v:
EBioMedicine, Vol 98, Iss , Pp 104855- (2023)
Summary: Background: Variants in SCN8A are associated with a spectrum of epilepsies and neurodevelopmental disorders. Ataxia as a predominant symptom of SCN8A variation has not been well studied. We set out to investigate disease mechanisms and genot
Externí odkaz:
https://doaj.org/article/1b5dc76223c0429dbb314567ae8ab2af
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 536-539 (2022)
Abstract Carbonic anhydrase VA deficiency is a recently described inherited cause of paediatric hyperammonaemia. Most published cases describe patients with only one episode of hyperammonaemia whilst others report patients who had up to three metabol
Externí odkaz:
https://doaj.org/article/65028c6e89254908abc0799bf889c2d9
Autor:
Ruth Richardson
Publikováno v:
European Journal of Life Writing, Vol 9, Pp LW&D81-LW&D107 (2020)
The theme of this article is how life writing can bury things, sometimes for generations, and how secrets buried in life can re-emerge after death, and disturb. Lives often make best sense read backwards, so here we start with revelations that emerge
Externí odkaz:
https://doaj.org/article/4962616795624733b581aa9b308ed712
Autor:
Kelly J. Mrklas, Shannon MacDonald, Melissa A. Shea-Budgell, Nancy Bedingfield, Heather Ganshorn, Sarah Glaze, Lea Bill, Bonnie Healy, Chyloe Healy, Juliet Guichon, Amy Colquhoun, Christopher Bell, Ruth Richardson, Rita Henderson, James Kellner, Cheryl Barnabe, Robert A. Bednarczyk, Angeline Letendre, Gregg S. Nelson
Publikováno v:
Systematic Reviews, Vol 7, Iss 1, Pp 1-20 (2018)
Abstract Background Despite the existence of human papilloma virus (HPV) vaccines with demonstrated safety and effectiveness and funded HPV vaccination programs, coverage rates are persistently lower and cervical cancer burden higher among Canadian I
Externí odkaz:
https://doaj.org/article/e0e47e090c5c48d3a54fa003a636e7dd
Autor:
Ruth Richardson
The recent discovery that as a young man Charles Dickens lived only a few doors from a major London workhouse made headlines worldwide, and the campaign to save the workhouse from demolition caught the public imagination. Internationally, the media i
Autor:
Ruth Richardson
Gray's Anatomy is probably one of the most iconic scientific books ever published: an illustrated textbook of anatomy that is still a household name 150 years since its first edition, known for its rigorously scientific text, and masterful illustrati
Publikováno v:
JIMD Reports. 63:536-539
Autor:
Sunwoo Lee, Lara Menzies, Eleanor Hay, Eguzkine Ochoa, France Docquier, Fay Rodger, Charu Deshpande, Nicola C Foulds, Sébastien Jacquemont, Khadije Jizi, Henriette Kiep, Alison Kraus, Katharina Löhner, Patrick J Morrison, Bernt Popp, Ruth Richardson, Arie Haeringen, Ezequiel Martin, Ana Toribio, Fudong Li, Wendy D Jones, Francis H Sansbury, Eamonn R Maher
Publikováno v:
Human Molecular Genetics.
Germline pathogenic variants in two genes encoding the lysine-specific histone methyltransferase genes SETD1A and SETD2 are associated with neurodevelopmental disorders (NDDs) characterised by developmental delay and congenital anomalies. The SETD1A
Autor:
Hang Lyu, Christian M Boßelmann, Katrine M Johannesen, Mahmoud Koko, Juan Dario Ortigoza-Escobar, Sergio Aguilera-Albesa, Deyanira Garcia-Navas Núñez, Tarja Linnankivi, Eija Gaily, Henriette JA van Ruiten, Ruth Richardson, Cornelia Betzler, Gabriella Horvath, Eva Brilstra, Niels Geerdink, Daniele Orsucci, Alessandra Tessa, Elena Gardella, Zofia Fleszar, Ludger Schöls, Holger Lerche, Rikke S Møller, Yuanyuan Liu
ObjectiveVariants inSCN8Aare associated with a spectrum of epilepsies and neurodevelopmental disorders. Ataxia as a predominant symptom ofSCN8Avariation has not been well studied. We set out to investigate disease mechanisms and genotype-phenotype co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a7e9667bbf96e84dc46ed623ce84eb70
https://doi.org/10.1101/2023.04.12.23288299
https://doi.org/10.1101/2023.04.12.23288299
Autor:
Katharine Edgerley, Lisa Bryson, Lucy Hanington, Rachel Irving, Shelagh Joss, Anne Lampe, Isabelle Maystadt, Deborah Osio, Ruth Richardson, Miranda Split, Francis H. Sansbury, Ingrid Scurr, Helen Stewart, Alisdair McNeil, Karen Low
Publikováno v:
Edgerley, K, Bryson, L, Hanington, L, Irving, R, Joss, S, Lampe, A, Maystadt, I, Osio, D, Richardson, R, Splitt, M, Sansbury, F H, Scurr, I, Stewart, H, McNeil, A & Low, K J 2023, ' SOX5 : Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum ', American Journal of Medical Genetics, Part A, vol. 191, no. 5, pp. 1447-1458 . https://doi.org/10.1002/ajmg.a.63124
To delineate further the clinical phenotype of Lamb–Shaffer Syndrome (LSS) 16 unpublished patients with heterozygous variation in SOX5 were identified either through the UK Decipher database or the study team was contacted by clinicians directly. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da6de326869a93bcfd7db6c335f8e45
https://hdl.handle.net/1983/6500363b-00e6-4b51-a3f7-a2df3113c9f4
https://hdl.handle.net/1983/6500363b-00e6-4b51-a3f7-a2df3113c9f4