المؤلفون: Haworth, Andrea, Homfray, Tessa, Drury, Suzanne, Dubis, Rand, McEntagart, Meriel, Brown, Kate Tatton, Savage, Helen, Filby, John, Lench, Nick, Serra, Eva, Trump, Natalie, Lahiri, Nayana, Kenny, Janna, Elmslie, Frances, Ostrowski, Phillip, Dempsey, Esther, Short, John, Crosby, Charlene, Hall, Christine, Mansour, Sahar

المصدر: Genetics in Medicine ; volume 24, issue 3, page S226 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.01.395Test
https://api.elsevier.com/content/article/PII:S1098360022004129?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022004129?httpAccept=text/plainTest

المؤلفون: 100,000 Genomes Project Pilot Investigators, Smedley, Damian, Smith, Katherine R, Martin, Antonio, Thomas, Ellen A, McDonagh, Ellen M, Cipriani, Valentina, Ellingford, Jamie M, Arno, Gavin, Tucci, Arianna, Vandrovcova, Jana, Chan, Georgia, Williams, Hywel J, Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Ibanez, Kristina, Moutsianas, Loukas, Wielscher, Matthias, Need, Anna, Barnes, Michael R, Vestito, Letizia, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Rehmström, Karola, Li, Emily, Fuller, Gavin, Twiss, Philip, Spasic-Boskovic, Olivera, Halsall, Sally, Floto, R Andres, Poole, Kenneth, Wagner, Annette, Mehta, Sarju G, Gurnell, Mark, Burrows, Nigel, James, Roger, Penkett, Christopher, Dewhurst, Eleanor, Gräf, Stefan, Mapeta, Rutendo, Kasanicki, Mary, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Reese, Martin G, Bale, Mark, Baple, Emma, Boustred, Christopher, Brittain, Helen, de Burca, Anna, Bleda, Marta, Devereau, Andrew, Halai, Dina, Haraldsdottir, Eik, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Polychronopoulos, Dimitris, Matchan, Angela, Sultana, Razvan, Ryten, Mina, Tavares, Ana LT, Tregidgo, Carolyn, Turnbull, Clare, Welland, Matthew, Wood, Suzanne, Snow, Catherine, Williams, Eleanor, Leigh, Sarah, Foulger, Rebecca E, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone US, Wright, Caroline F, Davies, Jim, Crichton, Charles, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Bockenhauer, Detlef, Broomfield, Alexander, Cleary, Maureen A, Lam, Tanya, Dattani, Mehul, Footitt, Emma, Ganesan, Vijeya, Grunewald, Stephanie, Compeyrot-Lacassagne, Sandrine, Muntoni, Francesco, Pilkington, Clarissa, Quinlivan, Rosaline, Thapar, Nikhil, Wallis, Colin, Wedderburn, Lucy R, Worth, Austen, Bueser, Teofila, Compton, Cecilia, Deshpande, Charu, Fassihi, Hiva, Haque, Eshika, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Robert, Leema, Rose, Sarah, Ruddy, Deborah, Sarkany, Robert, Say, Genevieve, Shaw, Adam C, Wolejko, Agata, Habib, Bishoy, Burns, Gavin, Hunter, Sarah, Grocock, Russell J, Humphray, Sean J, Robinson, Peter N, Haendel, Melissa, Simpson, Michael A, Banka, Siddharth, Clayton-Smith, Jill, Douzgou, Sofia, Hall, Georgina, Thomas, Huw B, O'Keefe, Raymond T, Michaelides, Michel, Moore, Anthony T, Malka, Sam, Pontikos, Nikolas, Browning, Andrew C, Straub, Volker, Gorman, Gráinne S, Horvath, Rita, Quinton, Richard, Schaefer, Andrew M, Yu-Wai-Man, Patrick, Turnbull, Doug M, McFarland, Robert, Taylor, Robert W, O'Connor, Emer, Yip, Janice, Newland, Katrina, Morris, Huw R, Polke, James, Wood, Nicholas W, Campbell, Carolyn, Camps, Carme, Gibson, Kate, Koelling, Nils, Lester, Tracy, Németh, Andrea H, Palles, Claire, Patel, Smita, Roy, Noemi BA, Sen, Arjune, Taylor, John, Cacheiro, Pilar, Jacobsen, Julius O, Seaby, Eleanor G, Davison, Val, Chitty, Lyn, Douglas, Angela, Naresh, Kikkeri, McMullan, Dom, Ellard, Sian, Temple, I Karen, Mumford, Andrew D, Wilson, Gill, Beales, Phil, Bitner-Glindzicz, Maria, Black, Graeme, Bradley, John R, Brennan, Paul, Burn, John, Chinnery, Patrick F, Elliott, Perry, Flinter, Frances, Houlden, Henry, Irving, Melita, Newman, William, Rahman, Shamima, Sayer, John A, Taylor, Jenny C, Webster, Andrew R, Wilkie, Andrew OM, Ouwehand, Willem H, Raymond, F Lucy, Chisholm, John, Hill, Sue, Bentley, David, Scott, Richard H, Fowler, Tom, Rendon, Augusto, Caulfield, Mark

مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/367485Test; https://doi.org/10.17863/CAM.108059Test

الإتاحة: https://doi.org/10.17863/CAM.108059Test
https://www.repository.cam.ac.uk/handle/1810/367485Test

المؤلفون: Suetterlin, Karen, Matthews, Emma, Sud, Richa, McCall, Samuel, Fialho, Doreen, Burge, James, Jayaseelan, Dipa, Haworth, Andrea, Sweeney, Mary G, Kullmann, Dimitri M, Schorge, Stephanie, Hanna, Michael G, Männikkö, Roope

المصدر: Brain ; volume 145, issue 2, page 607-620 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awab344Test
https://academic.oup.com/brain/article-pdf/145/2/607/43390382/awab344.pdfTest

المؤلفون: Pemberton, Lara, Barker, Robert, Cockell, Anna, Ramachandran, Vijaya, Haworth, Andrea, Homfray, Tessa

المصدر: BMC Medical Genetics ; volume 21, issue 1 ; ISSN 1471-2350

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1186/s12881-019-0939-zTest

المؤلفون: Tomlinson, Susan E., Tan, S. Veronica, Burke, David, Labrum, Robyn W., Haworth, Andrea, Gibbons, Vaneesha S., Sweeney, Mary G., Griggs, Robert C., Kullmann, Dimitri M., Bostock, Hugh, Hanna, Michael G.

المصدر: Brain ; volume 139, issue 2, page 380-391 ; ISSN 0006-8950 1460-2156

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1093/brain/awv380Test
http://academic.oup.com/brain/article-pdf/139/2/380/17349044/awv380.pdfTest

المؤلفون: Smedley, Damian, Smith, Katherine R, Martin, Antonio, Thomas, Ellen A, McDonagh, Ellen M, Cipriani, Valentina, Ellingford, Jamie M, Arno, Gavin, Tucci, Arianna, Vandrovcova, Jana, Chan, Georgia, Williams, Hywel J, Ratnaike, Thiloka, Wei, Wei, Stirrups, Kathleen, Ibanez, Kristina, Moutsianas, Loukas, Wielscher, Matthias, Need, Anna, Barnes, Michael R, Vestito, Letizia, Buchanan, James, Wordsworth, Sarah, Ashford, Sofie, Rehmström, Karola, Li, Emily, Fuller, Gavin, Twiss, Philip, Spasic-Boskovic, Olivera, Halsall, Sally, Floto, R Andres, Poole, Kenneth, Wagner, Annette, Mehta, Sarju G, Gurnell, Mark, Burrows, Nigel, James, Roger, Penkett, Christopher, Dewhurst, Eleanor, Gräf, Stefan, Mapeta, Rutendo, Kasanicki, Mary, Haworth, Andrea, Savage, Helen, Babcock, Melanie, Reese, Martin G, Bale, Mark, Baple, Emma, Boustred, Christopher, Brittain, Helen, de Burca, Anna, Bleda, Marta, Devereau, Andrew, Halai, Dina, Haraldsdottir, Eik, Hyder, Zerin, Kasperaviciute, Dalia, Patch, Christine, Polychronopoulos, Dimitris, Matchan, Angela, Sultana, Razvan, Ryten, Mina, Tavares, Ana L T, Tregidgo, Carolyn, Turnbull, Clare, Welland, Matthew, Wood, Suzanne, Snow, Catherine, Williams, Eleanor, Leigh, Sarah, Foulger, Rebecca E, Daugherty, Louise C, Niblock, Olivia, Leong, Ivone U S, Wright, Caroline F, Davies, Jim, Crichton, Charles, Welch, James, Woods, Kerrie, Abulhoul, Lara, Aurora, Paul, Bockenhauer, Detlef, Broomfield, Alexander, Cleary, Maureen A, Lam, Tanya, Dattani, Mehul, Footitt, Emma, Ganesan, Vijeya, Grunewald, Stephanie, Compeyrot-Lacassagne, Sandrine, Muntoni, Francesco, Pilkington, Clarissa, Quinlivan, Rosaline, Thapar, Nikhil, Wallis, Colin, Wedderburn, Lucy R, Worth, Austen, Bueser, Teofila, Compton, Cecilia, Deshpande, Charu, Fassihi, Hiva, Haque, Eshika, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Robert, Leema, Rose, Sarah, Ruddy, Deborah, Sarkany, Robert, Say, Genevieve, Shaw, Adam C, Wolejko, Agata, Habib, Bishoy, Burns, Gavin, Hunter, Sarah, Grocock, Russell J, Humphray, Sean J, Robinson, Peter N, Haendel, Melissa, Simpson, Michael A, Banka, Siddharth, Clayton-Smith, Jill, Douzgou, Sofia, Hall, Georgina, Thomas, Huw B, O'Keefe, Raymond T, Michaelides, Michel, Moore, Anthony T, Malka, Sam, Pontikos, Nikolas, Browning, Andrew C, Straub, Volker, Gorman, Gráinne S, Horvath, Rita, Quinton, Richard, Schaefer, Andrew M, Yu-Wai-Man, Patrick, Turnbull, Doug M, McFarland, Robert, Taylor, Robert W, O'Connor, Emer, Yip, Janice, Newland, Katrina, Morris, Huw R, Polke, James, Wood, Nicholas W, Campbell, Carolyn, Camps, Carme, Gibson, Kate, Koelling, Nils, Lester, Tracy, Németh, Andrea H, Palles, Claire, Patel, Smita, Roy, Noemi B A, Sen, Arjune, Taylor, John, Cacheiro, Pilar, Jacobsen, Julius O, Seaby, Eleanor G, Davison, Val, Chitty, Lyn, Douglas, Angela, Naresh, Kikkeri, McMullan, Dom, Ellard, Sian, Temple, I Karen, Mumford, Andrew D, Wilson, Gill, Beales, Phil, Bitner-Glindzicz, Maria, Black, Graeme, Bradley, John R, Brennan, Paul, Burn, John, Chinnery, Patrick F, Elliott, Perry, Flinter, Frances, Houlden, Henry, Irving, Melita, Newman, William, Rahman, Shamima, Sayer, John A, Taylor, Jenny C, Webster, Andrew R, Wilkie, Andrew O M, Ouwehand, Willem H, Raymond, F Lucy, Chisholm, John, Hill, Sue, Bentley, David, Scott, Richard H, Fowler, Tom, Rendon, Augusto, Caulfield, Mark

المصدر: N Engl J Med ; ISSN:1533-4406 ; Volume:385 ; Issue:20

العلاقة: https://doi.org/10.1056/NEJMoa2035790Test; https://pubmed.ncbi.nlm.nih.gov/34758253Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7613219Test/

الإتاحة: https://doi.org/10.1056/NEJMoa2035790Test
https://pubmed.ncbi.nlm.nih.gov/34758253Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7613219Test/

المؤلفون: Hall, Christine M., Liu, Becky, Haworth, Andrea, Reed, Laura, Pryce, Jeremy, Mansour, Sahar

المصدر: European Journal of Medical Genetics ; volume 64, issue 3, page 104162 ; ISSN 1769-7212

مصطلحات موضوعية: Genetics (clinical), Genetics, General Medicine

الإتاحة: https://doi.org/10.1016/j.ejmg.2021.104162Test
https://api.elsevier.com/content/article/PII:S1769721221000288?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1769721221000288?httpAccept=text/plainTest

المؤلفون: Cordeddu, Viviana, Macke, Erica L., Radio, Francesca Clementina, Lo Cicero, Stefania, Pantaleoni, Francesca, Tatti, Massimo, Bellacchio, Emanuele, Ciolfi, Andrea, Agolini, Emanuele, Bruselles, Alessandro, Brunetti‐Pierri, Nicola, Suri, Mohnish, Josephs, Katherine S., McEntagart, Meriel, Lanpher, Brendan, Nickels, Katherine C., Haworth, Andrea, Reed, Laura, Cappuccio, Gerarda, Mammi, Isabella, Tarnowski, Jessica M., Novelli, Antonio, Melis, Daniela, Callewaert, Bert, Dallapiccola, Bruno, Klee, Eric, Tartaglia, Marco, Deciphering Developmental Disorders Study, missing

المصدر: CLINICAL GENETICS ; ISSN: 0009-9163 ; ISSN: 1399-0004

مصطلحات موضوعية: Medicine and Health Sciences, Genetics(clinical), Genetics, clinical variation, genotype-phenotype correlations, intellectual disability Nascimento type, mutation spectrum, UBE2A, UBIQUITINATION, ENZYME

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8686023Test; http://hdl.handle.net/1854/LU-8686023Test; http://dx.doi.org/10.1111/cge.13775Test; https://biblio.ugent.be/publication/8686023/file/8686025Test

الإتاحة: https://doi.org/10.1111/cge.13775Test
https://biblio.ugent.be/publication/8686023Test
http://hdl.handle.net/1854/LU-8686023Test
https://biblio.ugent.be/publication/8686023/file/8686025Test

المؤلفون: Kleyner, Robert, Arif, Mohammad, Marchi, Elaine, Horowitz, Naomi, Haworth, Andrea, King, Brian, Gavin, Maureen, Amble, Karen, Velinov, Milen, Lyon, Gholson J.

المصدر: Cold Spring Harbor Molecular Case Studies; Feb2022, Vol. 8 Issue 2, p1-10, 10p

مصطلحات موضوعية: MITOCHONDRIA, ALLELES, GENETICS, QUANTITATIVE research, STATISTICS

المؤلفون: Suetterlin, Karen, Matthews, Emma, Sud, Richa, McCall, Samuel, Fialho, Doreen, Burge, James, Jayaseelan, Dipa, Haworth, Andrea, Sweeney, Mary G, Kullmann, Dimitri M, Schorge, Stephanie, Hanna, Michael G, Männikkö, Roope

المصدر: Brain: A Journal of Neurology; Feb2022, Vol. 145 Issue 2, p607-620, 14p

مصطلحات موضوعية: MYOTONIA congenita, NEUROMUSCULAR diseases, CHLORIDE channels, GENETIC counseling, GENETIC translation, GENETIC correlations, RECESSIVE genes, RESEARCH, GENETIC mutation, RESEARCH methodology, EVALUATION research, COMPARATIVE studies, RESEARCH funding, MEMBRANE proteins, MYOTONIA, PHENOTYPES