Zobrazeno 1 - 10
of 1 283
pro vyhledávání: '"Genetic Variation/*genetics"'
Autor:
Pairo-Castineira, Erola, Rawlik, Konrad, Bretherick, Andrew D, Qi, Ting, Wu, Yang, Nassiri, Isar, McConkey, Glenn A., Zechner, Marie, Klaric, Lucija, Griffiths, Fiona, Oosthuyzen, Wilna, Kousathanas, Athanasios, Richmond , Anne, Millar, Jonathan, Russell, Clark D, Malinauskas, Tomas, Thwaites, Ryan, Morrice, Kirstie, Keating, Sean, Maslove, David M, Nichol, Alistair D, Semple, Malcolm Gracie, Knight, Julian, Shankar-Hari, Manu, Summers, Charlotte, Hinds , Charles, Horby, Peter, Ling, Lowell, McAuley, Danny F., Montgomery, Hugh, Openshaw, Peter J.M., Begg, Colin, Walsh, Timothy S., Tenesa, Albert, Flores, Carlos, Riancho, Jose A., Rojas-Martinez, Augusto, Lapunzina, Pablo, Yang, Jian, Ponting, Chris P, Wilson, James F, Vitart, Veronique, Abedalthagafi, Malak S, Luchessi, Andre, Parra, Esteban J, Cruz, Raquel, Carracedo, Angel, Fawkes, Angie, Murphy, Lee, Rowan, Kathy, Pereira, Alexandre C, Law, Andy, Fairfax, Benjamin P, Clohisey Hendry, Sara, Baillie, J Kenneth
Publikováno v:
Pairo-Castineira, E, Rawlik, K, Bretherick, A D, Qi, T, Wu, Y, Nassiri, I, McConkey, G A, Zechner, M, Klaric, L, Griffiths, F, Oosthuyzen, W, Kousathanas, A, Richmond, A, Millar, J, Russell, C D, Malinauskas, T, Thwaites, R, Morrice, K, Keating, S, Maslove, D M, Nichol, A D, Semple, M G, Knight, J, Shankar-Hari, M, Summers, C, Hinds, C, Horby, P, Ling, L, McAuley, D F, Montgomery, H, Openshaw, P J M, Begg, C, Walsh, T S, Tenesa, A, Flores, C, Riancho, J A, Rojas-Martinez, A, Lapunzina, P, Yang, J, Ponting, C P, Wilson, J F, Vitart, V, Abedalthagafi, M S, Luchessi, A, Parra, E J, Cruz, R, Carracedo, A, Fawkes, A, Murphy, L, Rowan, K, Pereira, A C, Law, A, Fairfax, B P, Clohisey Hendry, S & Baillie, J K 2023, ' GWAS and meta-analysis identifies 49 genetic variants underlying critical Covid-19 ', Nature, vol. 617, no. 7962, pp. 764-768 . https://doi.org/10.1038/s41586-023-06034-3
Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype that we have previously shown 1 to be highly efficient for discovery of genetic associations 2. Despite the advanced stage of illness at presentation, we have sho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3094::43b7f0a3242c0f8452c02737c7d09b92
https://www.pure.ed.ac.uk/ws/files/348133266/s41586_023_06034_3.pdf
https://www.pure.ed.ac.uk/ws/files/348133266/s41586_023_06034_3.pdf
Autor:
Charles Christian Riis Hansen, Áki Jarl Láruson, Jacob Agerbo Rasmussen, Jesus Adrian Chimal Ballesteros, Mikkel‐Holger S. Sinding, Gunnar T. Hallgrimsson, Menja von Schmalensee, Robert A. Stefansson, Kristinn Haukur Skarphédinsson, Aili Lage Labansen, Madis Leivits, Christian Sonne, Rune Dietz, Kim Skelmose, David Boertmann, Igor Eulaers, Michael D. Martin, Agnar S. Helgason, M. Thomas P. Gilbert, Snæbjörn Pálsson
Publikováno v:
Hansen, C C R, Láruson, Á J, Rasmussen, J A, Ballesteros, J A C, Sinding, M-H S, Hallgrimsson, G T, von Schmalensee, M, Stefansson, R A, Skarphédinsson, K H, Labansen, A L, Leivits, M, Sonne, C, Dietz, R, Skelmose, K, Boertmann, D, Eulaers, I, Martin, M D, Helgason, A S, Gilbert, M T P & Pálsson, S 2023, ' Genomic diversity and differentiation between island and mainland populations of white-tailed eagles ( Haliaeetus albicilla ) ', Molecular Ecology, vol. 32, no. 8, pp. 1925-1942 . https://doi.org/10.1111/mec.16858
Hansen, C C R, Láruson, Á J, Rasmussen, J A, Ballesteros, J A C, Sinding, M H S, Hallgrimsson, G T, von Schmalensee, M, Stefansson, R A, Skarphédinsson, K H, Labansen, A L, Leivits, M, Sonne, C, Dietz, R, Skelmose, K, Boertmann, D, Eulaers, I, Martin, M D, Helgason, A S, Gilbert, M T P & Pálsson, S 2023, ' Genomic diversity and differentiation between island and mainland populations of white-tailed eagles ( Haliaeetus albicilla ) ', Molecular Ecology, vol. 32, no. 8, pp. 1925-1942 . https://doi.org/10.1111/mec.16858
Hansen, C C R, Láruson, Á J, Rasmussen, J A, Ballesteros, J A C, Sinding, M H S, Hallgrimsson, G T, von Schmalensee, M, Stefansson, R A, Skarphédinsson, K H, Labansen, A L, Leivits, M, Sonne, C, Dietz, R, Skelmose, K, Boertmann, D, Eulaers, I, Martin, M D, Helgason, A S, Gilbert, M T P & Pálsson, S 2023, ' Genomic diversity and differentiation between island and mainland populations of white-tailed eagles ( Haliaeetus albicilla ) ', Molecular Ecology, vol. 32, no. 8, pp. 1925-1942 . https://doi.org/10.1111/mec.16858
Divergence in the face of high dispersal capabilities is a documented but poorly understood phenomenon. The white-tailed eagle (Haliaeetus albicilla) has a large geographic dispersal capability and should theoretically be able to maintain genetic hom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46399c516a7aff588235cf68678b1408
https://curis.ku.dk/ws/files/346600761/Genomic_diversity_and_differentiation_between_island_and.pdf
https://curis.ku.dk/ws/files/346600761/Genomic_diversity_and_differentiation_between_island_and.pdf
Autor:
Saunders, Gretchen R. B., Wang, Xingyan, Chen, Fang, Jang, Seon-Kyeong, Liu, Mengzhen, Wang, Chen, Gao, Shuang, Jiang, Yu, Khunsriraksakul, Chachrit, Otto, Jacqueline M., Addison, Clifton, Akiyama, Masato, Albert, Christine M., Aliev, Fazil, Alonso, Alvaro, Arnett, Donna K., Ashley-Koch, Allison E., Ashrani, Aneel A., Barnes, Kathleen C., Barr, R. Graham, Bartz, Traci M., Becker, Diane M., Bielak, Lawrence F., Benjamin, Emelia J., Bis, Joshua C., Bjornsdottir, Gyda, Blangero, John, Bleecker, Eugene R., Boardman, Jason D., Boerwinkle, Eric, Boomsma, Dorret, Boorgula, Meher Preethi, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Chasman, Daniel, Chavan, Sameer, Chen, Yii-Der Ida, Chen, Zhengming, Cheng, Iona, Cho, Michael H., Choquet, Helene, Cole, John W., Cornelis, Marilyn C., Cucca, Francesco, Curran, Joanne E., de Andrade, Mariza, Dick, Danielle M., Docherty, Anna R., Duggirala, Ravindranath, Eaton, Charles B., Ehringer, Marissa A., Esko, Tonu, Faul, Jessica D., Silva, Lilian Fernandes, Fiorillo, Edoardo, Fornage, Myriam, Freedman, Barry, Gabrielsen, Maiken E., Garrett, Melanie E., Gharib, Sina A., Gieger, Christian, Gillespie, Nathan, Glahn, David C., Gordon, Scott D., Gu, Charles C., Gu, Dongfeng, Gudbjartsson, Daniel F., Guo, Xiuqing, Haessler, Jeffrey, Hall, Michael E., Haller, Toomas, Harris, Kathleen Mullan, He, Jiang, Herd, Pamela, Hewitt, John K., Hickie, Ian, Hidalgo, Bertha, Hokanson, John E., Hopfer, Christian, Hottenga, JoukeJan, Hou, Lifang, Huang, Hongyan, Hung, Yi-Jen, Hunter, David J., Hveem, Kristian, Hwang, Shih-Jen, Hwu, Chii-Min, Iacono, William, Irvin, Marguerite R., Jee, Yon Ho, Johnson, Eric O., Joo, Yoonjung Y., Jorgenson, Eric, Justice, Anne E., Kamatani, Yoichiro, Kaplan, Robert C., Kaprio, Jaakko, Kardia, Sharon L. R., Keller, Matthew C., Kelly, Tanika N., Kooperberg, Charles, Korhonen, Tellervo, Kraft, Peter, Krauter, Kenneth, Kuusisto, Johanna, Laakso, Markku, Lasky-Su, Jessica, Lee, Wen-Jane, Lee, James J., Levy, Daniel, Li, Liming, Li, Kevin, Li, Yuqing, Lin, Kuang, Lind, Penelope A., Liu, Chunyu, Lloyd-Jones, Donald M., Lutz, Sharon M., Ma, Jiantao, Magi, Reedik, Manichaikul, Ani, Martin, Nicholas G., Mathur, Ravi, Matoba, Nana, McArdle, Patrick F., McGue, Matt, McQueen, Matthew B., Medland, Sarah E., Metspalu, Andres, Meyers, Deborah A., Millwood, Iona Y., Mitchell, Braxton D., Mohlke, Karen L., Moll, Matthew, Montasser, May E., Morrison, Alanna C., Mulas, Antonella, Nielsen, Jonas B., North, Kari E., Oelsner, Elizabeth C., Okada, Yukinori, Orru, Valeria, Palmer, Nicholette D., Palviainen, Teemu, Pandit, Anita, Park, S. Lani, Peters, Ulrike, Peters, Annette, Peyser, Patricia A., Polderman, Tinca J. C., Rafaels, Nicholas, Redline, Susan, Reed, Robert M., Reiner, Alex P., Rice, John P., Rich, Stephen S., Richmond, Nicole E., Roan, Carol, Rotter, Jerome, Rueschman, Michael N., Runarsdottir, Valgerdur, Saccone, Nancy L., Schwartz, David A., Shadyab, Aladdin H., Shi, Jingchunzi, Shringarpure, Suyash S., Sicinski, Kamil, Skogholt, Anne Heidi, Smith, Jennifer A., Smith, Nicholas L., Sotoodehnia, Nona, Stallings, Michael C., Stefansson, Hreinn, Stefansson, Kari, Stitzel, Jerry A., Sun, Xiao, Syed, Moin, Tal-Singer, Ruth, Taylor, Amy E., Taylor, Kent D., Telen, Marilyn J., Thai, Khanh K., Tiwari, Hemant, Turman, Constance, Tyrfingsson, Thorarinn, Wall, Tamara L., Walters, Robin G., Weir, David R., Weiss, Scott T., White, Wendy B., Whitfield, John B., Wiggins, Kerri L., Willemsen, Gonneke, Willer, Cristen J., Winsvold, Bendik S., Xu, Huichun, Yanek, Lisa R., Yin, Jie, Young, Kristin L., Young, Kendra A., Yu, Bing, Zhao, Wei, Zhou, Wei, Zollner, Sebastian, Zuccolo, Luisa, Project, The Biobank Japan, Batini, Chiara, Bergen, Andrew W., Bierut, Laura J., David, Sean P., Taliun, Sarah A. Gagliano, Hancock, Dana B., Jiang, Bibo, Munafo, Marcus R., Thorgeirsson, Thorgeir E., Liu, Dajiang J., Vrieze, Scott
Publikováno v:
23andMe Research team & The Biobank Japan Project 2022, ' Genetic diversity fuels gene discovery for tobacco and alcohol use ', Nature, vol. 612, no. 7941, pp. 720-724 . https://doi.org/10.1038/s41586-022-05477-4
Nature, 612(7941), 720-724. Nature Publishing Group
Saunders, G R B, Wang, X, Chen, F, Boomsma, D I, Hottenga, J J, Polderman, T J C, Willemsen, G, Thorgeirsson, T E, Liu, D J, Vrieze, S, 23Andme Research Team & The Biobank Japan Project 2022, ' Genetic diversity fuels gene discovery for tobacco and alcohol use ', Nature, vol. 612, no. 7941, pp. 720-724 . https://doi.org/10.1038/s41586-022-05477-4
the 23 and Me Research Team 2022, ' Genetic diversity fuels gene discovery for tobacco and alcohol use ', Nature, vol. 612, no. 7941, pp. 720-724 . https://doi.org/10.1038/s41586-022-05477-4
Nature 612, 720–724 (2022)
Nature, 612(7941), 720-724. Nature Publishing Group
Saunders, G R B, Wang, X, Chen, F, Boomsma, D I, Hottenga, J J, Polderman, T J C, Willemsen, G, Thorgeirsson, T E, Liu, D J, Vrieze, S, 23Andme Research Team & The Biobank Japan Project 2022, ' Genetic diversity fuels gene discovery for tobacco and alcohol use ', Nature, vol. 612, no. 7941, pp. 720-724 . https://doi.org/10.1038/s41586-022-05477-4
the 23 and Me Research Team 2022, ' Genetic diversity fuels gene discovery for tobacco and alcohol use ', Nature, vol. 612, no. 7941, pp. 720-724 . https://doi.org/10.1038/s41586-022-05477-4
Nature 612, 720–724 (2022)
Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury1–4. These substances are used across the globe, yet genome-wide association
Autor:
Lucy Loong, Cankut Cubuk, Subin Choi, Sophie Allen, Beth Torr, Alice Garrett, Chey Loveday, Miranda Durkie, Alison Callaway, George J. Burghel, James Drummond, Rachel Robinson, Ian R. Berry, Andrew Wallace, Diana M. Eccles, Marc Tischkowitz, Sian Ellard, James S. Ware, Helen Hanson, Clare Turnbull, S. Samant, A. Lucassen, A. Znaczko, A. Shaw, A. Ansari, A. Kumar, A. Donaldson, A. Murray, A. Ross, A. Taylor-Beadling, A. Taylor, A. Innes, A. Brady, A. Kulkarni, A.-C. Hogg, A. Ramsay Bowden, A. Hadonou, B. Coad, B. McIldowie, B. Speight, B. DeSouza, B. Mullaney, C. McKenna, C. Brewer, C. Olimpio, C. Clabby, C. Crosby, C. Jenkins, C. Armstrong, C. Bowles, C. Brooks, C. Byrne, C. Maurer, D. Baralle, D. Chubb, D. Stobo, D. Moore, D. O'Sullivan, D. Donnelly, D. Randhawa, D. Halliday, E. Atkinson, E. Baple, E. Rauter, E. Johnston, E. Woodward, E. Maher, E. Sofianopoulou, E. Petrides, F. Lalloo, F. McRonald, F. Pelz, I. Frayling, G. Evans, G. Corbett, G. Rea, H. Clouston, H. Powell, H. Williamson, H. Carley, H.J.W. Thomas, I. Tomlinson, J. Cook, J. Hoyle, J. Tellez, J. Whitworth, J. Williams, J. Murray, J. Campbell, J. Tolmie, J. Field, J. Mason, J. Burn, J. Bruty, J. Callaway, J. Grant, J. Del Rey Jimenez, J. Pagan, J. VanCampen, J. Barwell, K. Monahan, K. Tatton-Brown, K.-R. Ong, K. Murphy, K. Andrews, K. Mokretar, K. Cadoo, K. Smith, K. Baker, K. Brown, K. Reay, K. McKay Bounford, K. Bradshaw, K. Russell, K. Stone, K. Snape, L. Crookes, L. Reed, L. Taggart, L. Yarram, L. Cobbold, L. Walker, L. Hawkes, L. Busby, L. Izatt, L. Kiely, L. Hughes, L. Side, L. Sarkies, K.-L. Greenhalgh, M. Shanmugasundaram, M. Duff, M. Bartlett, M. Watson, M. Owens, M. Bradford, M. Huxley, M. Slean, M. Ryten, M. Smith, M. Ahmed, N. Roberts, C. O'Brien, O. Middleton, P. Tarpey, P. Logan, P. Dean, P. May, P. Brace, R. Tredwell, R. Harrison, R. Hart, R. Kirk, R. Martin, R. Nyanhete, R. Wright, R. Davidson, R. Cleaver, S. Talukdar, S. Butler, J. Sampson, S. Ribeiro, S. Dell, S. Mackenzie, S. Hegarty, S. Albaba, S. McKee, S. Palmer-Smith, S. Heggarty, S. MacParland, S. Greville-Heygate, S. Daniels, S. Prapa, S. Abbs, S. Tennant, S. Hardy, S. MacMahon, T. McVeigh, T. Foo, T. Bedenham, T. Cranston, T. McDevitt, V. Clowes, V. Tripathi, V. McConnell, N. Woodwaer, Y. Wallis, Z. Kemp, G. Mullan, L. Pierson, L. Rainey, C. Joyce, A. Timbs, A.-M. Reuther, B. Frugtniet, C. Husher, C. Lawn, C. Corbett, D. Nocera-Jijon, D. Reay, E. Cross, F. Ryan, H. Lindsay, J. Oliver, J. Dring, J. Spiers, J. Harper, K. Ciucias, L. Connolly, M. Tsang, R. Brown, S. Shepherd, S. Begum, T. Tadiso, T. Linton-Willoughby, H. Heppell, K. Sahan, L. Worrillow, Z. Allen, M. Barlett, C. Watt, M. Hegarty
Publikováno v:
Loong, L, Cubuk, C, Choi, S, Allen, S, Torr, B, Garrett, A, Loveday, C, Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Robinson, R, Berry, IR, Wallace, A & CanVIG-UK 2021, ' Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 3, pp. 552-563 . https://doi.org/10.1016/j.gim.2021.11.011
Purpose: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a638418e559b935daf78b3ef4e1f05a
http://hdl.handle.net/10044/1/95227
http://hdl.handle.net/10044/1/95227
Autor:
Marcia L. Kalish, Kenneth E. Robbins, Danuta Pieniazek, Amanda Schaefer, Nzila Nzilambi, Thomas C. Quinn, Michael E. St. Louis, Ae S. Youngpairoj, Jonathan Phillips, Harold W. Jaffe, Thomas M. Folks
Publikováno v:
Emerging Infectious Diseases, Vol 10, Iss 7, Pp 1227-1234 (2004)
Central Africa was the epicenter of the HIV type 1 (HIV-1) pandemic. Understanding the early epidemic in the Democratic Republic of the Congo, formerly Zaire, could provide insight into how HIV evolved and assist vaccine design and intervention effor
Externí odkaz:
https://doaj.org/article/970eb13a8530442e9f0a0b9570bfc9a6
Publikováno v:
Genome Biology and Evolution
Bourgeois, Y, Ruggiero, R P, Manthey, J D & Boissinot, S 2019, ' Recent secondary contacts, linked selection, and variable recombination rates shape genomic diversity in the model species Anolis carolinensis ', Genome Biology and Evolution, vol. 11, no. 7, pp. 2009-2022 . https://doi.org/10.1093/gbe/evz110
Bourgeois, Y, Ruggiero, R P, Manthey, J D & Boissinot, S 2019, ' Recent secondary contacts, linked selection, and variable recombination rates shape genomic diversity in the model species Anolis carolinensis ', Genome Biology and Evolution, vol. 11, no. 7, pp. 2009-2022 . https://doi.org/10.1093/gbe/evz110
Gaining a better understanding on how selection and neutral processes affect genomic diversity is essential to gain better insights into the mechanisms driving adaptation and speciation. However, the evolutionary processes affecting variation at a ge
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 9
International journal of molecular sciences, 22 (9
International Journal of Molecular Sciences, Vol 22, Iss 4516, p 4516 (2021)
Volume 22
Issue 9
International journal of molecular sciences, 22 (9
International Journal of Molecular Sciences, Vol 22, Iss 4516, p 4516 (2021)
Sphingomyelin phosphodiesterase (SMPD1) is a key enzyme in the sphingolipid metabolism. Genetic SMPD1 variants have been related to the Niemann-Pick lysosomal storage disorder, which has different degrees of phenotypic severity ranging from severe sy
Autor:
Piaggi, P, Masindova, I, Muller, Yl, Mercader, J, Wiessner, Gb, Chen, P, Sigma Type, 2 Diabetes Consortium, Kobes, S, Hsueh, Wc, Mongalo, M, Knowler, Wc, Krakoff, J, Hanson, Rl, Bogardus, C, Baier, Lj
Publikováno v:
Diabetes
Pima Indians living in Arizona have a high prevalence of obesity, and we have previously shown that a relatively lower energy expenditure (EE) predicts weight and fat mass gain in this population. EE is a familial trait (heritability = 0.52); therefo
Autor:
Susan M. Mockus, Deborah I. Ritter, David Tamborero, Obi L. Griffith, Jeremy Goecks, Gordana Raca, Damian T. Rieke, Georgia Mayfield, Nuria Lopez-Bigas, Jianjiong Gao, Kilannin Krysiak, Melissa A. Haendel, Ryan P Duren, Olivier Elemento, Kyle Ellrott, Jordi Deu-Pons, Adam A. Margolin, Brian Walsh, Tero Aittokallio, Michael Baudis, Rodrigo Dienstmann, Subha Madhavan, Julie A. McMurry, Sara E. Patterson, Ethan Cerami, Ozman Ugur Sezerman, Robert R. Freimuth, Beth A. Pitel, Nikolaus Schultz, Lynn M. Schriml, Alex H. Wagner, Jeremy L. Warner, Mark Lawler, Jacques S. Beckmann, Dmitriy Sonkin, Catherine Del Vecchio Fitz, Xuan Shirley Li, Debyani Chakravarty, Malachi Griffith
Publikováno v:
Variant Interpretation for Cancer Consortium 2020, ' A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer ', Nature Genetics, vol. 52, no. 4, pp. 448-457 . https://doi.org/10.1038/s41588-020-0603-8
Nature Genetics
Nature genetics, vol. 52, no. 4, pp. 448-457
Scientia
Nature Genetics
Nature genetics, vol. 52, no. 4, pp. 448-457
Scientia
Precision oncology relies on accurate discovery and interpretation of genomic variants, enabling individualized diagnosis, prognosis and therapy selection. We found that six prominent somatic cancer variant knowledgebases were highly disparate in con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37b4128ca2649aae6483eb7ae33b29f
https://pure.qub.ac.uk/en/publications/eac9e539-6ee6-4236-a0fc-64fa11bb778e
https://pure.qub.ac.uk/en/publications/eac9e539-6ee6-4236-a0fc-64fa11bb778e
Autor:
Bayat, Allan, Knaus, Alexej, Pendziwiat, Manuela, Afenjar, Alexandra, Barakat, Tahsin Stefan, Bosch, Friedrich, Callewaert, Bert, Calvas, Patrick, Ceulemans, Berten, Chassaing, Nicolas, Depienne, Christel, Endziniene, Milda, Ferreira, Carlos R, Moura de Souza, Carolina Fischinger, Freihuber, Cécile, Ganesan, Shiva, Gataullina, Svetlana, Guerrini, Renzo, Guerrot, Anne-Marie, Hansen, Lars, Jezela-Stanek, Aleksandra, Karsenty, Caroline, Kievit, Anneke, Kooy, Frank R, Korff, Christian, Kragh Hansen, Johanne, Larsen, Martin, Layet, Valérie, Lesca, Gaetan, McBride, Kim L, Meuwissen, Marije, Mignot, Cyril, Montomoli, Martino, Moore, Hannah, Naudion, Sophie, Nava, Caroline, Nougues, Marie-Christine, Parrini, Elena, Pastore, Matthew, Schelhaas, Jurgen H, Skinner, Steven, Szczałuba, Krzysztoł, Thomas, Ashley, Thomassen, Mads, Tranebjaerg, Lisbeth, van Slegtenhorst, Marjon, Wolfe, Lynne A, Lal, Dennis, Gardella, Elena, Bomme Ousager, Lilian, Brünger, Tobias, Helbig, Ingo, Krawitz, Peter, Møller, Rikke S
Publikováno v:
Epilepsia, Vol. 61, No 6 (2020) pp. 1142-1155
Objective: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations. Methods: Our cohort encompasses 40 affected males
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1400::8c138d54f17ebbfe81ec8e0b7a5c2fc1
https://archive-ouverte.unige.ch/unige:157600
https://archive-ouverte.unige.ch/unige:157600