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Preview	Issue Date	Title	Author(s)
	1998	Coexistence of Gaucher-Disease Type 1 and Joubert-Syndrome	Van Royen-Kerkhof, A.; Pollthe, B.; Kleijer, W.; van Diggelen, O.; Aerts, J.; Hopwood, J.; Beemer, F.
	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.
	2000	New mutations in MID1 provide support for loss of function as the cause of X-linked Optiz syndrome	Cox, T.; Allen, L.; Cox, L.; Hopwood, B.; Goodwin, B.; Haan, E.; Suthers, G.
	2000	Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome	Villard, L.; Fontes, M.; Ades, L.; Gecz, J.
	2005	Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)	Wieland, I.; Reardon, W.; Jakubiczka, S.; Franco, B.; Kress, W.; Vincent-Delorme, C.; Theirry, P.; Edwards, M.; Konig, R.; Rusu, C.; Schweiger, S.; Thompson, E.; Tinschert, S.; Stewart, F.; Wieacker, P.
	1998	Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2	Scheffer, I.; Phillips, H.; O'Brien, C.; Saling, M.; Wrennall, J.; Wallace, R.; Mulley, J.; Berkovic, S.
	2001	Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome	Kelberman, D.; Tyson, J.; Chandler, D.; McInerney, A.; Slee, J.; Albert, D.; Aymat, A.; Botma, M.; Calvert, M.; Goldblatt, J.; Haan, E.; Laing, N.; Lim, J.; Malcolm, S.; Singer, S.; Winter, R.; Bitner-Glindzicz, M.
	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.
	2004	Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.	Partington, M.; Turner, G.; Boyle, J.; Gecz, J.
	2004	1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family	Lower, K.; Solders, G.; Bondeson, M.; Nelson, J.; Brun, A.; Crawford, J.; Malm, G.; Borjeson, M.; Turner, G.; Partington, M.; Gecz, J.