Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Bowdin, S."'
Autor:
Szego, M.J., Meyn, M.S., Shuman, C., Zlotnik Shaul, R., Anderson, J.A., Bowdin, S., Monfared, N., Hayeems, R.Z.
Publikováno v:
In European Journal of Medical Genetics May 2019 62(5):350-356
Autor:
Anderson, J A, Meyn, M S, Shuman, C, Shaul, R Zlotnik, Mantella, L E, Szego, M J, Bowdin, S, Monfared, N, Hayeems, R Z
Publikováno v:
Journal of Medical Ethics, 2017 Aug 01. 43(8), 535-539.
Externí odkaz:
https://www.jstor.org/stable/44606618
Autor:
French, CE, Delon, I, Dolling, H, Sanchis-Juan, A, Shamardina, O, Mégy, K, Abbs, S, Austin, T, Bowdin, S, Branco, RG, Firth, H, Tuna, S, Aitman, TJ, Ashford, S, Astle, WJ, Bennet, DL, Bleda, M, Carss, KJ, Chinnery, PF, Deevi, SVV, Fletcher, D, Gale, DP, Gräf, SF, Hu, F, James, R, Kasanicki, MA, Kingston, N, Koziell, AB, Allen, HL, Maher, ER, Markus, HS, Meacham, S, Morrell, NW, Penkett, CJ, Roberts, I, Smith, KGC, Stark, H, Stirrups, KE, Turro, E, Watkins, H, Williamson, C, Young, T, Bradley, JR, Ouwehand, WH, Raymond, FL, Agrawal, S, Armstrong, R, Beardsall, K, Belteki, G, Bohatschek, M, Broster, S, Campbell, R, Chaudhary, R, Costa, C, D’Amore, A, Fitzsimmons, A, Hague, J, Harley, J, Hoodbhoy, S, Kayani, R, Kelsall, W, Mehta, SG, O’Donnell, R, O’Hare, S, Ogilvy-Stuart, A, Papakostas, S, Park, SM, Parker, A, Pathan, N, Prapa, M, Sammut, A, Sandford, R, Schon, K, Singh, Y, Spike, K, Tavares, ALT, Wari-Pepple, D, Wong, HS, Woods, CG, Rowitch, DH
Publikováno v:
2019, ' Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children ', Intensive Care Medicine, vol. 45, no. 5, pp. 627-636 . https://doi.org/10.1007/s00134-019-05552-x
Intensive Care Medicine
French, C E, Delon, I, Dolling, H, Sanchis-Juan, A, Shamardina, O, Mégy, K, Abbs, S, Austin, T, Bowdin, S, Branco, R G, Firth, H, Williamson, C & Rowitch, D H & Raymond, F L & Dixon, P 2019, ' Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children ', Intensive Care Medicine, vol. 45, no. 5, pp. 627-636 . https://doi.org/10.1007/s00134-019-05552-x
Intensive Care Medicine
French, C E, Delon, I, Dolling, H, Sanchis-Juan, A, Shamardina, O, Mégy, K, Abbs, S, Austin, T, Bowdin, S, Branco, R G, Firth, H, Williamson, C & Rowitch, D H & Raymond, F L & Dixon, P 2019, ' Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children ', Intensive Care Medicine, vol. 45, no. 5, pp. 627-636 . https://doi.org/10.1007/s00134-019-05552-x
Purpose With growing evidence that rare single gene disorders present in the neonatal period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to assist acute and long-term clinical decisions. This study aimed to ide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fea855d42d553df60c3de14262258d3
https://doi.org/10.1007/s00134-019-05552-x
https://doi.org/10.1007/s00134-019-05552-x
Autor:
Dijck, A. van, Vulto-van Silfhout, A.T., Cappuyns, E., Werf, I.M. van der, Mancini, G.M., Tzschach, A., Bernier, R., Gozes, I., Eichler, E.E., Romano, C., Lindstrand, A., Nordgren, A., Kvarnung, M., Kleefstra, T., Vries, B.B.A. de, Kury, S., Rosenfeld, J.A., Meuwissen, M.E., Vandeweyer, G., Kooy, R.F., Bakshi, M., Wilson, M., Berman, Y., Dickson, R., Fransen, E., Helsmoortel, C., Ende, J. van den, Aa, N. van der, Wijdeven, M.J. van de, Rosenblum, J., Monteiro, F., Kok, F., Quercia, N., Bowdin, S., Dyment, D., Chitayat, D., Alkhunaizi, E., Boonen, S.E., Keren, B., Jacquette, A., Faivre, L., Bezieau, S., Isidor, B., Riess, A., Moog, U., Lynch, S.A., McVeigh, T., Elpeleg, O., Smeland, M.F., Fannemel, M., Haeringen, A. van, Maas, S.M., Veenstra-Knol, H.E., Schouten, M., Willemsen, M.H., Marcelis, C.L., Ockeloen, C., Burgt, I. van der, Feenstra, I., Smagt, J. van der, Jezela-Stanek, A., Krajewska-Walasek, M., Gonzalez-Lamuno, D., Anderlid, B.M., Malmgren, H., Nordenskjold, M., Clement, E., Hurst, J., Metcalfe, K., Mansour, S., Lachlan, K., Clayton-Smith, J., Hendon, L.G., Abdulrahman, O.A., Morrow, E., McMillan, C., Gerdts, J., Peeden, J., Vergano, S.A.S., Valentino, C., Chung, W.K., Ozmore, J.R., Bedrosian-Sermone, S., Dennis, A., Treat, K., Hughes, S.S., Safina, N., Pichon, J.B. le, McGuire, M., Infante, E., Madan-Khetarpal, S., Desai, S., Benke, P., Krokosky, A., Cristian, I., Baker, L., Gripp, K., Stessman, H.A., Eichenberger, J., Jayakar, P., Pizzino, A., Manning, M.A., Slattery, L., ADNP Consortium
Publikováno v:
Biological Psychiatry, 85(4), 287-297. ELSEVIER SCIENCE INC
Biological Psychiatry Volume 85, Issue 4, 15 February 2019, Pages 287-297
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Biological Psychiatry, 85, 4, pp. 287-297
Biological Psychiatry, 85(4), 287. Elsevier USA
Biological psychiatry
Biological Psychiatry, 85, 287-297
Biological psychiatry, 85(4), 287-297. Elsevier USA
Biological Psychiatry, 85(4), 287-297. Elsevier Inc.
Biological Psychiatry Volume 85, Issue 4, 15 February 2019, Pages 287-297
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Biological Psychiatry, 85, 4, pp. 287-297
Biological Psychiatry, 85(4), 287. Elsevier USA
Biological psychiatry
Biological Psychiatry, 85, 287-297
Biological psychiatry, 85(4), 287-297. Elsevier USA
Biological Psychiatry, 85(4), 287-297. Elsevier Inc.
Background In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::517869385daa59216cda03fc628eb520
http://hdl.handle.net/1887/122773
http://hdl.handle.net/1887/122773
Autor:
Hosseini, SM, Kim, R, Udupa, S, Costain, G, Jobling, R, Liston, E, Jamal, SM, Szybowska, M, Morel, CF, Bowdin, S, Garcia, J, Care, M, Sturm, AC, Novelli, V, Ackerman, MJ, Ware, JS, Hershberger, RE, Wilde, AAM, Gollob, MH, NIH-Clinical Genome Resource Consortium
Background -Implicit in the genetic evaluation of patients with suspected genetic diseases is the assumption that the genes evaluated are causative for the disease based on robust scientific and statistical evidence. However, in the past 20 years con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::162ed23b0569d47e1103dad20c999d85
http://hdl.handle.net/10044/1/61287
http://hdl.handle.net/10044/1/61287
BACKGROUND: Fibrinogen Storage Disease (FSD) is characterized by hypofibrinogenemia and hepatic inclusions due to impaired release of mutant fibrinogen causing aggregation in the hepatic endoplasmic reticulum. AIMS: Review of clinical, laboratory,his
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5f9688947f9546e8a19e4e1f1846a7a
https://europepmc.org/articles/PMC6507683/
https://europepmc.org/articles/PMC6507683/
Akademický článek
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Akademický článek
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Autor:
Vaags, A., Bowdin, S., Smith, M., Gilbert-Dussardier, B., Brocke-Holmefjord, K., Sinopoli, K., Gilles, C., Haaland, T., Vincent-Delorme, C., Lagrue, E., Harbuz, R., Walker, S., Marshall, C., Houge, G., Kalscheuer, V., Scherer, S., Minassian, B.
Publikováno v:
Annals of Neurology
Synaptic function is central to brain function. Understanding the synapse is aided by studies of patients lacking individual synaptic proteins. Common neurological diseases are genetically complex. Their understanding is likewise simplified by studie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1874::18b6e424f1aa023ea81280e4c6433720
https://hdl.handle.net/11858/00-001M-0000-0025-C06D-D11858/00-001M-0000-0025-C06B-2
https://hdl.handle.net/11858/00-001M-0000-0025-C06D-D11858/00-001M-0000-0025-C06B-2
Autor:
Sousa, S. B., Hennekam, R. C., Abdul-Rahman, O., Alders, M., Azzarello-Burri, S., Bottani, A., Bowdin, S., Castori, M., Cormier-Daire, V., Deardorff, M., Del Campo Casanelles, M., Devriendt, K., Fauth, C., Filges, I., Fryer, A., Garavelli, L., Gillessen-Kaesback, G., Hall, B., Hirofumi, O., Holder, S., Hoyer, J., Jenkins, L., Klapeki, J., Krajewska-Walasek, M., Kosho, T., Kuechler, A., Macdermot, K., Magee, A., Mari, F., Mathieu-Dramard, M., Napier, M., Perez-Jurado, L. A., Picard, F. M., Morin, G., Murday, V., Pilch, J., Ronan, A., Rosser, E., Santen, G. W. E., Scott, R., Selicorni, A., Shannon, N., Santos-Simarro, F., Stewart, H., van den Boogaard, M. -J., Vilain, C., Vermeesch, J., Vogels, A., Wakeling, E., Wieczorek, D., Yesil, G., Zuffardi, O., Zweier, C.
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. (3)
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8d5d02eb4f0616e19e9792d85dfaf201
https://pubmed.ncbi.nlm.nih.gov/25169058
https://pubmed.ncbi.nlm.nih.gov/25169058