المؤلفون: Chen, Zhongbo, Tucci, Arianna, Cipriani, Valentina, Gustavsson, Emil K, Ibañez, Kristina, Reynolds, Regina H, Zhang, David, Vestito, Letizia, García, Alejandro Cisterna, Sethi, Siddharth, Brenton, Jonathan W, García-Ruiz, Sonia, Fairbrother-Browne, Aine, Gil-Martinez, Ana-Luisa, Ambrose, John C, Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M, Boustred, Christopher R, Craig, Clare E H, de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E, Furió-Tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A, Perez-Gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo

المساهمون: Leonard Wolfson Foundation, UK Medical Research Council, UK Dementia Research Institute, Alzheimer’s Society, Alzheimer’s Research UK, Wellcome Trust, Dolby Family Ventures, National Institute for Health and Care Research, Science and Technology Agency, Fundación Séneca, CARM

المصدر: Brain ; volume 146, issue 7, page 2869-2884 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awad009Test
https://academic.oup.com/brain/article-pdf/146/7/2869/50784615/awad009.pdfTest

المؤلفون: Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Chinnery, Patrick F, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, Tucci, Arianna, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Craig, Clare E.h., De Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J.p., Jackson, Rob, Jones, Louise J., Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.a., Leong, Ivonne U.s., Lopez, Javier F., Maleady-crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Riesgo-ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Temple, Karen

وصف الملف: text

العلاقة: https://eprints.soton.ac.uk/455528/1/1_s2.0_S1474442221004622_main.pdfTest; Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Chinnery, Patrick F, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, Tucci, Arianna, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Craig, Clare E.h., De Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J.p., Jackson, Rob, Jones, Louise J., Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.a., Leong, Ivonne U.s., Lopez, Javier F., Maleady-crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Riesgo-ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena and Temple, Karen (2022) Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. The Lancet Neurology, 21 (3), 234-245. (doi:10.1016/S1474-4422(21)00462-2 ).

الإتاحة: https://doi.org/10.1016/S1474-4422Test(21)00462-2
https://eprints.soton.ac.uk/455528Test/
https://eprints.soton.ac.uk/455528/1/1_s2.0_S1474442221004622_main.pdfTest

المؤلفون: Jones, Christine L., Degasperi, Andrea, Grandi, Vieri, Amarante, Tauanne D., Mitchell, Tracey J., Nik-Zainal, Serena, Whittaker, Sean J., Ambrose, John C., Arumugam, Prabhu, Baple, Emma L., Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Craig, Clare E. H., Daugherty, Louise C., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Fowler, Tom, Furió-Tarí, Pedro, Giess, Adam, Hackett, Joanne M., Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James E., Hubbard, Tim J. P., Ibáñez, Kristina, Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E. A., Leong, Ivonne U. S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, McDonagh, Ellen M., Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Orioli, Andrea, Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Smith, Katherine R., Smith, Samuel C., Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Tanguy, Mélanie, Thomas, Ellen R. A., Thompson, Simon R., Tregidgo, Carolyn, Tucci, Arianna, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena

مصطلحات موضوعية: Article, /631/67/1990/291/1621/1916, /631/67/69

وصف الملف: text/xml; application/zip; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/317803Test

الإتاحة: https://doi.org/10.17863/CAM.64918Test
https://www.repository.cam.ac.uk/handle/1810/317803Test

المؤلفون: Freeman, Timothy M., Genomics England Research Consortium, Wang, Dennis, Harris, Jason, Ambrose, John C., Arumugam, Prabhu, Baple, Emma L., Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Caulfield, Mark J., Chan, Georgia C., Craig, Clare E.H., Daugherty, Louise C., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Fowler, Tom, Furió-Tarí, Pedro, Hackett, Joanne M., Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James E., Hubbard, Tim J.P., Ibáñez, Kristina, Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, McDonagh, Ellen M., Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Smith, Katherine R., Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thomas, Ellen R.A., Thompson, Simon R., Tregidgo, Carolyn, Tucci, Arianna, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena

مصطلحات موضوعية: METHOD

وصف الملف: text/html

العلاقة: http://genome.cshlp.org/cgi/content/short/30/3/415Test; http://dx.doi.org/10.1101/gr.255349.119Test

الإتاحة: https://doi.org/10.1101/gr.255349.119Test
http://genome.cshlp.org/cgi/content/short/30/3/415Test