Zobrazeno 1 - 10
of 464
pro vyhledávání: '"Delatycki MB"'
Publikováno v:
The Application of Clinical Genetics, Vol 2015, Iss default, Pp 19-25 (2015)
Raelia M Lew,1,7 Leslie Burnett,2,3,4 Anné L Proos,2 Martin B Delatycki5,6 1Department of Obstetrics and Gynecology, QEII Research Institute for Mothers and Infants, The University of Sydney, Australia; 2NSW Health Pathology North, Royal North Shore
Externí odkaz:
https://doaj.org/article/3272cac3a85140549dea7edfd1733708
Autor:
Archibald, AD, McClaren, BJ, Caruana, J, Tutty, E, King, EA, Halliday, JL, Best, S, Kanga-Parabia, A, Bennetts, BH, Cliffe, CC, Madelli, EO, Ho, G, Liebelt, J, Long, JC, Braithwaite, J, Kennedy, J, Massie, J, Emery, JD, McGaughran, J, Marum, JE, Boggs, K, Barlow-Stewart, K, Burnett, L, Dive, L, Freeman, L, Davis, MR, Downes, MJ, Wallis, M, Ferrie, MM, Pachter, N, Scuffham, PA, Casella, R, Allcock, RJN, Ong, R, Edwards, S, Righetti, S, Lunke, S, Lewis, S, Walker, SP, Boughtwood, TF, Hardy, T, Newson, AJ, Kirk, EP, Laing, NG, Delatycki, MB
Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______363::d0d392f332f791ee05340217a4f8918e
https://hdl.handle.net/10453/164252
https://hdl.handle.net/10453/164252
PURPOSE: Genes associated with nonsyndromic hearing loss are commonly included in reproductive carrier screening panels, which are now routinely offered in preconception and prenatal care in many countries. However, there is debate whether hearing lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______363::4ab0c5941d53bf4c5a4ab91607b8a85c
https://hdl.handle.net/10453/170567
https://hdl.handle.net/10453/170567
Autor:
Delatycki, MB, Allen, KJ, Nisselle, AE, Collins, V, Metcalfe, S, du Sart, D, Halliday, J, Aitken, MA, Macciocca, I, Hill, V, Wakefield, A, Ritchie, A, Gason, AA, Nicoll, AJ, Powell, LW, Williamson, R
Publikováno v:
In The Lancet 2005 366(9482):314-316
Publikováno v:
Journal of Medical Ethics
Non-invasive prenatal testing (NIPT) is at the forefront of prenatal screening. Current uses for NIPT include fetal sex determination and screening for chromosomal disorders such as trisomy 21 (Down syndrome). However, NIPT may be expanded to many di
Autor:
Folker JE, Murdoch BE, Cahill LM, Rosen KM, Delatycki MB, Corben LA, Vogel AP, Folker, Joanne E, Murdoch, Bruce E, Cahill, Louise M, Rosen, Kristin M, Delatycki, Martin B, Corben, Louise A, Vogel, Adam P
Publikováno v:
Motor Control; Jul2011, Vol. 15 Issue 3, p376-389, 14p
Autor:
Sherr, Elliott, Marsh, APL, Lukic, V, Pope, K, Bromhead, C, Tankard, R, Ryan, MM, Yiu, EM, Sim, JCH, Delatycki, MB, Amor, DJ
Publikováno v:
Sherr, Elliott; Marsh, APL; Lukic, V; Pope, K; Bromhead, C; Tankard, R; et al.(2015). Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/4h72s8bj
To determine the molecular basis of a severe neurologic disorder in a large consanguineous family with complete agenesis of the corpus callosum (ACC), pontocerebellar hypoplasia (PCH), and peripheral axonal neuropathy.Assessment included clinical eva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::264fb19d12e52c125ed78313142591cc
http://www.escholarship.org/uc/item/4h72s8bj
http://www.escholarship.org/uc/item/4h72s8bj
Autor:
Freude, K, Hoffmann, K, Jensen, LR, Delatycki, MB, des Portes, [No Value], Moser, B, Hamel, B, van Bokhoven, H, Moraine, C, Fryns, JP, Chelly, J, Gecz, J, Lenzner, S, Kalscheuer, VM, Ropers, HH
Publikováno v:
American Journal of Human Genetics, 75(2), 305-309. CELL PRESS
Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that similar to 30% of these genes cluster on the proximal Xp, which prompted us t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::8db21d9e092d7a4ecba9cb669214e95b
https://research.rug.nl/en/publications/36d6074e-f2ad-4e41-9095-57b1f4710a08
https://research.rug.nl/en/publications/36d6074e-f2ad-4e41-9095-57b1f4710a08
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.