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Preview	Issue Date	Title	Author(s)
	2016	HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study	Friez, M.; Brooks, S.; Stevenson, R.; Field, M.; Basehore, M.; Adès, L.; Sebold, C.; Mcgee, S.; Saxon, S.; Skinner, C.; Craig, M.; Murray, L.; Simensen, R.; Yap, Y.; Shaw, M.; Gardner, A.; Corbett, M.; Kumar, R.; Bosshard, M.; Van Loon, B.; et al.
	2016	X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes	Hu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; et al.
	2016	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID	van Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
	2016	De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations	Reijnders, M.; Zachariadis, V.; Latour, B.; Jolly, L.; Mancini, G.; Pfundt, R.; Wu, K.; Van Ravenswaaij-Arts, C.; Veenstra-Knol, H.; Anderlid, B.; Wood, S.; Cheung, S.; Barnicoat, A.; Probst, F.; Magoulas, P.; Brooks, A.; Malmgren, H.; Harila-Saari, A.; Marcelis, C.; Vreeburg, M.; et al.
	2016	Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort	Eggers, S.; Sadedin, S.; van den Bergen, J.; Robevska, G.; Ohnesorg, T.; Hewitt, J.; Lambeth, L.; Bouty, A.; Knarston, I.; Tan, T.; Cameron, F.; Werther, G.; Hutson, J.; O'Connell, M.; Grover, S.; Heloury, Y.; Zacharin, M.; Bergman, P.; Kimber, C.; Brown, J.; et al.
	2016	The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant	Koolen, D.A.; Pfundt, R.; Linda, K.; Beunders, G.; Veenstra-Knol, H.E.; Conta, E.H.; Fortuna, A.M.; Gillessen-Kaesbach, G.; Dugan, S.; Halbach, S.; Abdul-Rahman, O.A.; Winesett, H.M.; Chung, W.K.; Dalton, M.; Dimova, P.S.; Mattina, T.; Prescott, K.; Zhang, H.Z.; Saal, H.M.; Hehir-Kwa, J.Y.; et al.