Adelaide Research & Scholarship: Search

Search

Search:
for

Current filters:

Start a new search

Add filters:

Results/Page | Sort items by In order Authors/record

Results 1-10 of 12 (Search time: 0.004 seconds).

previous
1
2
next

Item hits:

Preview	Issue Date	Title	Author(s)
	1997	A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome	Muenke, M.; Gripp, K.; McDonald-McGinn, D.; Gaudenz, K.; Whitaker, L.; Bartlett, S.; Markowitz, R.; Robin, N.; Nwokoro, N.; Mulvihill, J.; Losken, H.; Mulliken, J.; Guttmacher, A.; Wilroy, R.; Clarke, L.; Hollway, G.; Ades, L.; Haan, E.; Mulley, J.; Cohen, M.; et al.
	2019	Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2	Corbett, M.A.; Kroes, T.; Veneziano, L.; Bennett, M.F.; Florian, R.; Schneider, A.L.; Coppola, A.; Licchetta, L.; Franceschetti, S.; Suppa, A.; Wenger, A.; Mei, D.; Pendziwiat, M.; Kaya, S.; Delledonne, M.; Straussberg, R.; Xumerle, L.; Regan, B.; Crompton, D.; van Rootselaar, A.-F.; et al.
	2021	Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants	Whalen, S.; Shaw, M.; Mignot, C.; Héron, D.; Bastaraud, S.C.; Walti, C.C.; Liebelt, J.; Elmslie, F.; Yap, P.; Hurst, J.; Forsythe, E.; Kirmse, B.; Ozmore, J.; Spinelli, A.M.; Calabrese, O.; de Villemeur, T.B.; Tabet, A.C.; Levy, J.; Guet, A.; Kossorotoff, M.; et al.
	2015	Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis	Ramos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
	2014	Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma	Aoude, L.; Pritchard, A.; Robles-Espinoza, C.; Wadt, K.; Harland, M.; Choi, J.; Gartside, M.; Quesada, V.; Johansson, P.; Palmer, J.; Ramsay, A.; Zhang, X.; Jones, K.; Symmons, J.; Holland, E.; Schmid, H.; Bonazzi, V.; Woods, S.; Dutton-Regester, K.; Stark, M.; et al.
	2008	SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome	Gilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.; Edkins, S.; et al.
	2013	Mutations in DEPDC5 cause familial focal epilepsy with variable foci	Dibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
	2007	An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation	Upadyaya, M.; Huson, S.; Davies, M.; Thomas, N.; Chuzhanova, N.; Giovannini, S.; Evans, D.; Howard, E.; Kerr, B.; Kerr, B.; Consoli, C.; Side, L.; Adams, D.; Pierpont, M.; Hatchen, R.; Barnicoat, A.; Li, H.; Wallace, P.; Van Biervliet, J.; Stevenson, D.; et al.
	2002	ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation	Bienvenu, T.; Poirier, K.; Friocourt, G.; Bahi, N.; Beaumont, D.; Fauchereau, F.; Jeema, L.; Zemni, R.; Vinet, M.; Francis, F.; Couvert, P.; Gomot, M.; Moraine, C.; van Bokhoven, H.; Kalscheuer, V.; Frints, S.; Gecz, J.; Ohzaki, K.; Chaabouni, H.; Fryns, J.; et al.
	2007	Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor	Ali, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.