المؤلفون: Emma Wakeling, Meriel McEntagart, Michael Bruccoleri, Charles Shaw-Smith, Karen L. Stals, Matthew Wakeling, Angela Barnicoat, Clare Beesley, Andrea K. Hanson-Kahn, Mary Kukolich, David A. Stevenson, Philippe M. Campeau, Sian Ellard, Sarah H. Elsea, Xiang-Jiao Yang, Richard C. Caswell

المصدر: HGG Advances, Vol 2, Iss 1, Pp 100015- (2021)

مصطلحات موضوعية: Histone deacetylase 4, intellectual disability, gain-of-function, 14-3-3 binding, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247720300154; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/246a7dacb117428c8733e2f639e82ae3

المؤلفون: Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk

المصدر: EMBO Molecular Medicine, Vol 17, Iss 1, Pp 193-210 (2024)

مصطلحات موضوعية: Exome Sequencing, Lactic Acidosis, Mitochondrial Disease, RNA Processing, tRNA, Medicine (General), R5-920, Genetics, QH426-470

Relation: https://doi.org/10.1038/s44321-024-00172-5; https://doaj.org/toc/1757-4684; https://doaj.org/article/b5fa508dc9ca49af856798aa0160019c

الاتاحة: https://doi.org/10.1038/s44321-024-00172-5
https://doaj.org/article/b5fa508dc9ca49af856798aa0160019c

المؤلفون: Karen L. Stals, Matthew Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C. Gunning, Hana Lango Allen, Lisa Bradley, Angela F. Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Andrew E. Fry, Alan Fryer, Muriel Holder, Tessa Homfray, Emma Kivuva, Victoria McKay, Ruth Newbury-Ecob, Michael Parker, Ravi Savarirayan, Claire Searle, Nora Shannon, Deborah Shears, Sarah Smithson, Ellen Thomas, Peter D. Turnpenny, Vinod Varghese, Pradeep Vasudevan, Emma Wakeling, Emma L. Baple, Sian Ellard

مصطلحات موضوعية: Uncategorized, IR content

Relation: 2381/42860; https://figshare.com/articles/journal_contribution/Diagnosis_of_lethal_or_prenatal-onset_autosomal_recessive_disorders_by_parental_exome_sequencing_/10245698

الاتاحة: https://figshare.com/articles/journal_contribution/Diagnosis_of_lethal_or_prenatal-onset_autosomal_recessive_disorders_by_parental_exome_sequencing_/10245698

المؤلفون: Vardha Ismail, Linda G. Zachariassen, Annie Godwin, Mane Sahakian, Sian Ellard, Karen L. Stals, Emma Baple, Kate Tatton Brown, Nicola Foulds, Gabrielle Wheway, Matthew O. Parker, Signe M. Lyngby, Miriam G. Pedersen, Julie Desir, Allan Bayat, Maria Musgaard, Matthew Guille, Anders S. Kristensen, Diana Baralle

المصدر: Ismail, V, Zachariassen, L G, Godwin, A, Sahakian, M, Ellard, S, Stals, K L, Baple, E, Brown, K T, Foulds, N, Wheway, G, Parker, M O, Lyngby, S M, Pedersen, M G, Desir, J, Bayat, A, Musgaard, M, Guille, M, Kristensen, A S & Baralle, D 2022, ' Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID : An emerging neurodevelopmental syndrome ', American Journal of Human Genetics, vol. 109, no. 7, pp. 1217-1241 . https://doi.org/10.1016/j.ajhg.2022.05.009

مصطلحات موضوعية: Heterozygote, GLUTAMATE-RECEPTOR, INTELLECTUAL DISABILITY, Mutation, Missense, CHANNEL CONDUCTANCE, AMPA-RECEPTOR, Cohort Studies, Neurodevelopmental Disorders, SYNAPTIC PLASTICITY, LIGAND-BINDING, Genetics, LURCHER MUTATION, Humans, XENOPUS-LAEVIS, CRYSTAL-STRUCTURES, Receptors, AMPA, Genetics (clinical), SPATIAL MEMORY

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2447239acb651f58a52c081710ba7e50
https://curis.ku.dk/portal/da/publications/identification-and-functional-evaluation-of-gria1-missense-and-truncation-variants-in-individuals-with-id(9576e283-94cc-4daf-91c3-e74d23a8b35f).html

المؤلفون: Emma L. Edghill, Richard A. Oram, Martina Owens, Karen L. Stals, Lorna W. Harries, Andrew T. Hattersley, Sian Ellard, Coralie Bingham

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://ndt.oxfordjournals.org/content/23/2/627.full.pdf.

مصطلحات موضوعية: HNF-1b, renal disease, diabetes, deletion

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.531.3990; http://ndt.oxfordjournals.org/content/23/2/627.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.531.3990
http://ndt.oxfordjournals.org/content/23/2/627.full.pdf

المؤلفون: Emma L. Edghill, Richard A. Oram, Martina Owens, Karen L. Stals, Lorna W. Harries, Andrew T. Hattersley, Sian Ellard, Coralie Bingham

المصدر: Nephrology Dialysis Transplantation; Feb2008, Vol. 23 Issue 2, p627-627, 1p

مصطلحات موضوعية: KIDNEY diseases, ENDOCRINE diseases, DIABETES, CYSTS (Pathology)