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pro vyhledávání: '"Halachev, Mihail"'
Akademický článek
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Autor:
Halachev, Mihail
The amount of available biological sequences, represented as strings over the DNA and protein alphabets, grows at phenomenal rate. Supporting various search tasks over such data efficiently requires development of sophisticated indexing techniques. R
Externí odkaz:
http://spectrum.library.concordia.ca/976387/1/NR63445.pdf
Autor:
Hall, Hildegard Nikki, Parry, David, Halachev, Mihail, Williamson, Kathleen A., Donnelly, Kevin, Parada, Jose Campos, Bhatia, Shipra, Joseph, Jeffrey, Holden, Simon, Prescott, Trine E., Bitoun, Pierre, Kirk, Edwin P., Newbury-Ecob, Ruth, Lachlan, Katherine, Bernar, Juan, van Heyningen, Veronica, FitzPatrick, David R., Meynert, Alison
Publikováno v:
Journal of Medical Genetics; Mar2024, Vol. 61 Issue 3, p250-261, 12p
Autor:
Halachev, Mihail1 (AUTHOR) mihail.halachev@igmm.ed.ac.uk, Meynert, Alison1 (AUTHOR), Taylor, Martin S.1 (AUTHOR), Vitart, Veronique1 (AUTHOR), Kerr, Shona M.1 (AUTHOR), Klaric, Lucija1 (AUTHOR), Aitman, Timothy J.2 (AUTHOR), Haley, Chris S.1,3 (AUTHOR), Prendergast, James G.3 (AUTHOR), Pugh, Carys4 (AUTHOR), Hume, David A.5 (AUTHOR), Harris, Sarah E.6 (AUTHOR), Liewald, David C.6 (AUTHOR), Deary, Ian J.6 (AUTHOR), Semple, Colin A.1 (AUTHOR), Wilson, James F.1,7 (AUTHOR)
Publikováno v:
PLoS Genetics. 11/25/2019, Vol. 15 Issue 11, p1-29. 29p.
Akademický článek
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Akademický článek
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Autor:
Aitken, Stuart, Firth, Helen V, McRae, Jeremy, Halachev, Mihail, Kini, Usha, Parker, Michael J, Lees, Melissa M, Lachlan, Katherine, Sarkar, Ajoy, Joss, Shelagh, Splitt, Miranda, McKee, Shane, Németh, Andrea H, Scott, Richard H, Wright, Caroline F, Marsh, Joseph A, Hurles, Matthew E, FitzPatrick, David R, DDD Study
Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the Deciphering Developmental Disorders (DDD) study. Here we aim to use the breadth of phenotypic inf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::280bbbe989df17cf48e0a61583563050
https://www.repository.cam.ac.uk/handle/1810/313939
https://www.repository.cam.ac.uk/handle/1810/313939
Autor:
Handley, Mark T., Reddy, Kaalak, Wills, Jimi, Rosser, Elisabeth, Kamath, Archith, Halachev, Mihail, Falkous, Gavin, Williams, Denise, Cox, Phillip, Meynert, Alison, Raymond, Eleanor S., Morrison, Harris, Brown, Stephen, Allan, Emma, Aligianis, Irene, Jackson, Andrew P., Ramsahoye, Bernard H., von Kriegsheim, Alex, Taylor, Robert W., Finch, Andrew J., FitzPatrick, David R.
Publikováno v:
Handley, M, Reddy, K, Wills, J, Rosser, E, Kamath, A, Halachev, M, Falkous, G, Williams, D, Cox, P, Meynert, A, Raymond, E, Morrison, H, Brown, S, Allan, E, Aligianis, I, Jackson, A P, Ramsahoye, B H, Von Kriegsheim, A, Taylor, R W, Finch, A J & FitzPatrick, D R 2019, ' ITPase Deficiency Causes a Martsolf-Like Syndrome With a Lethal Infantile Dilated Cardiomyopathy ', PLoS Genetics . https://doi.org/10.1371/journal.pgen.1007605
PLoS Genetics, Vol 15, Iss 3, p e1007605 (2019)
PLoS Genetics
PLoS Genetics, Vol 15, Iss 3, p e1007605 (2019)
PLoS Genetics
Typical Martsolf syndrome is characterized by congenital cataracts, postnatal microcephaly, developmental delay, hypotonia, short stature and biallelic hypomorphic mutations in either RAB3GAP1 or RAB3GAP2. Genetic analysis of 85 unrelated “mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::58172ab4cb60969507720c711a47a224
https://www.pure.ed.ac.uk/ws/files/80919071/ITPase_Deficiency_Causes_a_Martsolf_Like_Syndrome_With_a_Lethal_Infantile_Dilated_Cardiomyopathy.docx
https://www.pure.ed.ac.uk/ws/files/80919071/ITPase_Deficiency_Causes_a_Martsolf_Like_Syndrome_With_a_Lethal_Infantile_Dilated_Cardiomyopathy.docx
Autor:
Chan Jacqueline Z-M, Halachev Mihail R, Loman Nicholas J, Constantinidou Chrystala, Pallen Mark J
Publikováno v:
BMC Microbiology, Vol 12, Iss 1, p 302 (2012)
Abstract Background Microbial taxonomy remains a conservative discipline, relying on phenotypic information derived from growth in pure culture and techniques that are time-consuming and difficult to standardize, particularly when compared to the eas
Externí odkaz:
https://doaj.org/article/7c4883e208144697a09bfdbdb2fb923d
Autor:
Rainger, Joe, Williamson, Kathleen A, Soares, Dinesh C, Truch, Julia, Kurian, Dominic, Gillessen‐Kaesbach, Gabriele, Seawright, Anne, Prendergast, James, Halachev, Mihail, Wheeler, Ann, McTeir, Lynn, Gill, Andrew C, van Heyningen, Veronica, Davey, Megan G, FitzPatrick, David R
Publikováno v:
Rainger, J, Williamson, K, Soares, D, Truch, J, Thekkedath Kurian, D, Gillessen-Kaesbach, G, Seawright, A, Prendergast, J, Halachev, M, Wheeler, A, McTeir, L, Gill, A, Van Heyningen, V, Davey, M & FitzPatrick, D R 2017, ' A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma ', Human Mutation, vol. 38, no. 8, pp. 942-946 . https://doi.org/10.1002/humu.23246
Human Mutation
Human Mutation
Ocular coloboma (OC) is a defect in optic fissure closure and is a common causeof severe congenital visual impairment. Bilateral OC is primarily genetically determined and shows marked locus heterogeneity. Whole exome sequencing was used to analyse t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::bc3bac402a2d5c721a45149da93b25fa
https://www.pure.ed.ac.uk/ws/files/48771893/Rainger_et_al_2017_Human_Mutation.pdf
https://www.pure.ed.ac.uk/ws/files/48771893/Rainger_et_al_2017_Human_Mutation.pdf