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Results 1-10 of 11 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1997A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeMuenke, 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.
2000New mutations in MID1 provide support for loss of function as the cause of X-linked Optiz syndromeCox, T.; Allen, L.; Cox, L.; Hopwood, B.; Goodwin, B.; Haan, E.; Suthers, G.
2001Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndromeKelberman, 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.
1998Autosomal dominant Klippel-Feil anomaly with cleft palateThompson, E.; Haan, E.; Sheffield, L.
1999X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisationWoffendin, H.; Jakins, T.; Jouet, M.; Stewart, H.; Landy, S.; Haan, E.; Harris, A.; Donnai, D.; Read, A.; Kenwrick, S.
1997The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathiesD'Adamo, P.; Fassone, L.; Gedeon, A.; Janssen, E.; Bione, S.; Bolhuis, P.; Barth, P.; Wilson, M.; Haan, E.; Orstavik, H.; Patton, M.; Green, A.; Zammarchi, E.; Donati, M.; Toniolo, D.
1995A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathyLaing, N.; Wilton, S.; Akkari, P.; Dorosz, S.; Boundy, K.; Kneebone, C.; Blumbergs, P.; White, S.; Watkins, H.; Love, D.; Haan, E.
2005The Hunter-McAlpine syndrome results from duplication 5q35-qterHunter, A.; DuPont, B.; McLaughlin, M.; Hinton, L.; Baker, E.; Ades, L.; Haan, E.; Schwartz, C.
2011Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD IHe, H.; Liyanarachchi, S.; Akagi, K.; Nagy, R.; Li, J.; Dietrich, R.; Li, W.; Sebastian, N.; Wen, B.; Xin, B.; Singh, J.; Yan, P.; Alder, H.; Haan, E.; Wieczorek, D.; Albrecht, B.; Puffenberger, E.; Wang, H.; Westman, J.; Padgett, R.; et al.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.