المؤلفون: Vandersteen, Anthony M, Weerakkody, Ruwan A, Parry, David A, Kanonidou, Christina, Toddie-Moore, Daniel J, Vandrovcova, Jana, Darlay, Rebecca, Santoyo-Lopez, Javier, Meynert, Alison, NIHR BioResource, Kazkaz, Hanadi, Grahame, Rodney, Cummings, Carole, Bartlett, Marion, Ghali, Neeti, Brady, Angela F, Pope, F Michael, van Dijk, Fleur S, Cordell, Heather J, Aitman, Timothy J

مصطلحات موضوعية: Genotype-phenotype correlations

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/61/3/232Test; http://dx.doi.org/10.1136/jmg-2023-109329Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109329Test
http://jmg.bmj.com/cgi/content/short/61/3/232Test

المؤلفون: Leighton, Danielle J., Ansari, Morad, Newton, Judith, Parry, David, Cleary, Elaine, Colville, Shuna, Stephenson, Laura, Larraz, Juan, Johnson, Micheala, Beswick, Emily, Wong, Michael, Gregory, Jenna, Carod Artal, Javier, Davenport, Richard, Duncan, Callum, Morrison, Ian, Smith, Colin, Swingler, Robert, Deary, Ian J., Porteous, Mary, Aitman, Timothy J., Chandran, Siddharthan, Gorrie, George H., Pal, Suvankar

المصدر: Leighton , D J , Ansari , M , Newton , J , Parry , D , Cleary , E , Colville , S , Stephenson , L , Larraz , J , Johnson , M , Beswick , E , Wong , M , Gregory , J , Carod Artal , J , Davenport , R , Duncan , C , Morrison , I , Smith , C , Swingler , R , Deary , I J , Porteous , M , Aitman , T J , Chandran , S , Gorrie , G H , Pal , ....

مصطلحات موضوعية: Amyotrophic lateral sclerosis, Genetics, Motor neuron disease, Survival, /dk/atira/pure/subjectarea/asjc/2800/2808, name=Neurology, /dk/atira/pure/subjectarea/asjc/2700/2728, name=Clinical Neurology

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/6dc4146d-c407-4147-a6ea-4ca33ab6716dTest

الإتاحة: https://doi.org/10.1007/s00415-022-11505-0Test
https://discovery.dundee.ac.uk/en/publications/6dc4146d-c407-4147-a6ea-4ca33ab6716dTest
https://discovery.dundee.ac.uk/ws/files/92708459/s00415_022_11505_0.pdfTest
http://www.scopus.com/inward/record.url?scp=85143907679&partnerID=8YFLogxKTest

المؤلفون: Hocking, Lynne J., Andrews, Claire, Armstrong, Christine, Ansari, Morad, Baty, David, Berg, Jonathan, Bradley, Therese, Clark, Caroline, Diamond, Austin, Doherty, Jill, Lampe, Anne, McGowan, Ruth, Moore, David J., O'Sullivan, Dawn, Purvis, Andrew, Santoyo-Lopez, Javier, Westwood, Paul, Abbott, Michael, Williams, Nicola, Aitman, Timothy J., Miedzybrodzka, Zosia

المصدر: Hocking , L J , Andrews , C , Armstrong , C , Ansari , M , Baty , D , Berg , J , Bradley , T , Clark , C , Diamond , A , Doherty , J , Lampe , A , McGowan , R , Moore , D J , O'Sullivan , D , Purvis , A , Santoyo-Lopez , J , Westwood , P , Abbott , M , Williams , N & Aitman , T J & Miedzybrodzka , Z 2023 , ' Genome sequencing with gene panel-based analysis for rare inherited conditions ....

مصطلحات موضوعية: Diagnostic markers, Genetics testing, Health policy

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/b2cc2a61-f334-4e28-87e7-3eff03751b8aTest

الإتاحة: https://doi.org/10.1038/s41431-022-01226-3Test
https://discovery.dundee.ac.uk/en/publications/b2cc2a61-f334-4e28-87e7-3eff03751b8aTest
https://discovery.dundee.ac.uk/ws/files/92725048/s41431_022_01226_3.pdfTest
http://www.scopus.com/inward/record.url?scp=85143493136&partnerID=8YFLogxKTest

المؤلفون: Hocking, Lynne J., Andrews, Claire, Armstrong, Christine, Ansari, Morad, Baty, David, Berg, Jonathan, Bradley, Therese, Clark, Caroline, Diamond, Austin, Doherty, Jill, Lampe, Anne, McGowan, Ruth, Moore, David J., O'Sullivan, Dawn, Purvis, Andrew, Santoyo-Lopez, Javier, Westwood, Paul, Abbott, Michael, Williams, Nicola, Scottish Genomes Partnership, Aitman, Timothy J., Miedzybrodzka, Zosia

وصف الملف: text

العلاقة: https://eprints.gla.ac.uk/288195/1/288195.pdfTest; Hocking, L. J. et al. (2023) Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing. European Journal of Human Genetics , 31(2), pp. 231-238. (doi:10.1038/s41431-022-01226-3 ) (PMID:36474026) (PMCID:PMC9905562)

الإتاحة: https://doi.org/10.1038/s41431-022-01226-3Test
https://eprints.gla.ac.uk/288195Test/
https://eprints.gla.ac.uk/288195/1/288195.pdfTest

المؤلفون: Vandersteen, Anthony M, Weerakkody, Ruwan A, Parry, David A, Kanonidou, Christina, Toddie-Moore, Daniel J, Vandrovcova, Jana, Darlay, Rebecca, Santoyo-Lopez, Javier, Meynert, Alison, Kazkaz, Hanadi, Grahame, Rodney, Cummings, Carole, Bartlett, Marion, Ghali, Neeti, Brady, Angela F, Pope, F Michael, van Dijk, Fleur S, Cordell, Heather J, Aitman, Timothy J

المصدر: Journal of Medical Genetics , 61 (3) pp. 232-238. (2023)

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10187829/1/232.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10187829Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10187829/1/232.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10187829Test/

المؤلفون: Arno, Gavin, Carss, Keren J, Hull, Sarah, Zihni, Ceniz, Robson, Anthony G, Fiorentino, Alessia, Hardcastle, Alison J, Holder, Graham E, Cheetham, Michael E, Plagnol, Vincent, Moore, Anthony, Raymond, F Lucy, Matter, Karl, Balda, Maria S, Webster, Andrew R, Black, Graeme, Hall, Georgina, Ingram, Stuart, Gillespie, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Khan, Kamron, Lord, Emma, Nemeth, Andrea, Downes, Susan, Halford, Stephanie, Yu, Jing, Lise, Stefano, Ponitkos, Nikos, Michaelides, Michel, Webster, Andrew, van Heyningen, Veronica, Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K, Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R, Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carmichael, Jenny, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Cooper, Nichola, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri VV, Deshpande, Charu

المصدر: American Journal of Human Genetics. 100(2)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Ophthalmology and Optometry, Human Genome, Rare Diseases, Neurosciences, Eye Disease and Disorders of Vision, Aetiology, 2.1 Biological and endogenous factors, Eye, Adult, Alleles, Amino Acid Sequence, Cell Polarity, Epithelial Cells, Exome, Eye Proteins, Female, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Male, Membrane Proteins, Middle Aged, Mutation, Missense, Nerve Tissue Proteins, Pedigree, Phenotype, Retina, Retinal Degeneration, Retinal Dystrophies, Rho Guanine Nucleotide Exchange Factors, rhoA GTP-Binding Protein, UK Inherited Retinal Disease Consortium, NIHR Bioresource - Rare Diseases Consortium, ARHGEF18, apicobasal polarity, inherited retinal dystrophy, p114RhoGEF, retinal degeneration, retinitis pigmentosa, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0fh0z4hjTest

المؤلفون: Carss, Keren J, Arno, Gavin, Erwood, Marie, Stephens, Jonathan, Sanchis-Juan, Alba, Hull, Sarah, Megy, Karyn, Grozeva, Detelina, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Penkett, Christopher, Stirrups, Kathleen, Rizzo, Roberta, Wright, Genevieve, Josifova, Dragana, Bitner-Glindzicz, Maria, Scott, Richard H, Clement, Emma, Allen, Louise, Armstrong, Ruth, Brady, Angela F, Carmichael, Jenny, Chitre, Manali, Henderson, Robert HH, Hurst, Jane, MacLaren, Robert E, Murphy, Elaine, Paterson, Joan, Rosser, Elisabeth, Thompson, Dorothy A, Wakeling, Emma, Ouwehand, Willem H, Michaelides, Michel, Moore, Anthony T, Consortium, NIHR-BioResource Rare Diseases, Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K, Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R, Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Church, Colin, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Cooper, Nichola, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri VV, Deshpande, Charu, Devlin, Lisa, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, Edgar, David

المصدر: American Journal of Human Genetics. 100(1)

مصطلحات موضوعية: Genetics, Neurosciences, Eye Disease and Disorders of Vision, Human Genome, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Eye, Good Health and Well Being, Adaptor Proteins, Signal Transducing, Alleles, Base Sequence, Choroideremia, DNA Mutational Analysis, Ethnicity, Exome, Female, Genes, Recessive, Genetic Variation, Genome, Human, Humans, Introns, Male, Mutation, Rare Diseases, Retinal Diseases, NIHR-BioResource Rare Diseases Consortium, copy-number variants, rare sequence variant, retinal dystrophy, whole-genome sequence, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/813320tzTest

المؤلفون: Salati, Victoria, Coote, Abbie, Adamowicz, Martyna, Robert, Christelle, Carey, Lara M., Cuschieri, Kate, Conn, Brendan, Noble, David, Hay, Ashley, Aitman, Timothy J., Nixon, Iain J.

المصدر: European Journal of Surgical Oncology ; volume 50, issue 2, page 107388 ; ISSN 0748-7983

مصطلحات موضوعية: Oncology, General Medicine, Surgery

الإتاحة: https://doi.org/10.1016/j.ejso.2023.107388Test
https://api.elsevier.com/content/article/PII:S0748798323010260?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0748798323010260?httpAccept=text/plainTest

المؤلفون: Vandersteen, Anthony M., Weerakkody, Ruwan A., Parry, David A., Kanonidou, Christina, Toddie-Moore, Daniel J., Vandrovcova, Jana, Darlay, Rebecca, Santoyo-Lopez, Javier, Meynert, Alison, Kazkaz, Hanadi, Grahame, Rodney, Cummings, Carole, Bartlett, Marion, Ghali, Neeti, Brady, Angela F., Pope, F. Michael, van Dijk, Fleur S., Cordell, Heather J., Aitman, Timothy J.

المصدر: Journal of Medical Genetics; Mar2024, Vol. 61 Issue 3, p232-238, 7p

المؤلفون: Dulias, Katharina, Foody, M. George B., Justeau, Pierre, Silva, Marina, Martiniano, Rui, Oteo-García, Gonzalo, Fichera, Alessandro, Rodrigues, Simão, Gandini, Francesca, Meynert, Alison, Donnelly, Kevin, Aitman, Timothy J., Chamberlain, Andrew, Lelong, Olivia, Kozikowski, George, Powlesland, Dominic, Waddington, Clive, Mattiangeli, Valeria, Bradley, Daniel G., Bryk, Jaroslaw, Soares, Pedro, Wilson, James F., Wilson, Graeme, Moore, Hazel, Pala, Maria, Edwards, Ceiridwen J., Richards, Martin B.

المصدر: Scottish Genomes Partnership , Dulias , K , Foody , M G B , Justeau , P , Silva , M , Martiniano , R , Oteo-García , G , Fichera , A , Rodrigues , S , Gandini , F , Meynert , A , Donnelly , K , Aitman , T J , Chamberlain , A , Lelong , O , Kozikowski , G , Powlesland , D , Waddington , C , Mattiangeli , V , Bradley , D G , Bryk , J , Soares , P , Wilson , J F , Wilson , ....

الإتاحة: https://doi.org/10.1073/pnas.2108001119Test
https://pure.hud.ac.uk/en/publications/62f91c0e-5122-443f-829e-148e918ee823Test
http://www.scopus.com/inward/record.url?scp=85124253300&partnerID=8YFLogxKTest