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Preview | Issue Date | Title | Author(s) |
| 2018 | De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females | Palmer, E.; Stuhlmann, T.; Weinert, S.; Haan, E.; van Esch, H.; Holvoet, M.; Boyle, J.; Leffler, M.; Raynaud, M.; Moraine, C.; van Bokhoven, H.; Kleefstra, T.; Kahrizi, K.; Najmabadi, H.; Ropers, H.; Delgado, M.; Sirsi, D.; Golla, S.; Sommer, A.; Pietryga, M.; et al. |
| 1996 | Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome: implications for mapping and cloning the BOR gene | Gu, J.; Wagner, M.; Haan, E.; Wells, D. |
| 2006 | Diagnosis of foetal alcohol syndrome and alcohol use in pregnancy: A survey of paediatricians' knowledge, attitudes and practice | Elliott, E.; Payne, J.; Haan, E.; Bower, C. |
| 2003 | Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation | Kalscheuer, V.; Tao, J.; Donnelly, A.; Hollway, G.; Schwinger, E.; Kubart, S.; Menzel, C.; Hoeltzenbein, M.; Tommerup, N.; Eyre, H.; Harbord, M.; Haan, E.; Sutherland, G.; Ropers, H.; Gecz, J. |
| 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. |
| 1995 | Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome | Ades, L.; Morris, L.; Power, R.; Wilson, M.; Haan, E.; Bateman, J.; Milewicz, D.; Sillence, D. |
| 2009 | DNA from Buccal Swabs Suitable for High-Throughput SNP Multiplex Analysis | McMichael, G.; Gibson, C.; O'Callaghan, M.; Goldwater, P.; Dekker, G.; Haan, E.; MacLennan, A. |
| 1998 | Effect of Parity, Gravidity, Previous Miscarriage, and Age On Risk of Downs-Syndrome - Population Based Study | Chan, A.; McCaul, K.; Keane, R.; Haan, E. |
| 2011 | Epidemiologic associations with cerebral palsy | O'Callaghan, M.; MacLennan, A.; Gibson, C.; McMichael, G.; Haan, E.; Broadbent, J.; Goldwater, P.; Dekker, G. |
| 2010 | Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families | Hynes, 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. |
| 2008 | Epilepsy and mental retardation limited to females: an under-recognized disorder | Scheffer, I.; Turner, S.; Dibbens, L.; Bayly, M.; Friend, K.; Hodgson, B.; Burrows, L.; Shaw, M.; Wei, C.; Ullmann, R.; Ropers, H.; Szepetowski, P.; Haan, E.; Mazarib, A.; Afawi, Z.; Neufeld, M.; Andrews, P.; Wallace, G.; Kivity, S.; Lev, D.; et al. |
| 2013 | Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH | Nicholl, J.; Waters, W.; Suwalski, S.; Brown, S.; Hull, Y.; Harbord, M.; Entwistle, J.; Thompson, S.; Clark, D.; Pridmore, C.; Haan, E.; Barnett, C.; McGregor, L.; Liebelt, J.; Thompson, E.; Friend, K.; Bain, S.; Yu, S.; Mulley, J. |
| 2005 | Familial Parry-Romberg disease | Anderson, P.; Molony, D.; Haan, E.; David, D. |
| 2006 | FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited | Ades, L.; Sullivan, K.; Biggin, A.; Haan, E.; Brett, M.; Holman, K.; Dixon, J.; Robertson, S.; Holmes, A.; Rogers, J.; Bennetts, B. |
| 2008 | Fetal alcohol syndrome: a prospective national surveillance study | Elliott, E.; Payne, J.; Morris, A.; Haan, E.; Bower, C. |
| 2012 | Fetal and maternal candidate single nucleotide polymorphism associations with Cerebral Palsy: a case-control study | O'Callaghan, M.; MacLennan, A.; Gibson, C.; McMichael, G.; Haan, E.; Broadbent, J.; Goldwater, P.; Painter, J.; Montgomery, G.; Dekker, G. |
| 2008 | Fetal exposure to herpesviruses may be associated with pregnancy-induced hypertensive disorders and preterm birth in a Caucasian population | Gibson, C.; Goldwater, P.; MacLennan, A.; Haan, E.; Priest, K.; Dekker, G. |
| 2011 | Fetal MBL2 haplotypes combined with viral exposure are associated with adverse pregnancy outcomes | Gibson, C.; MacLennan, A.; Haan, E.; Priest, K.; Dekker, G. |
| 1997 | First-trimester diagnosis of Smith-Lemli-Opitz syndrome | Sharp, P.; Haan, E.; Fletcher, J.; Khong, T.; Carey, W. |
| 1997 | FMR2 expression in families with FRAXE mental retardation | Gecz, J.; Oostra, B.; Hockey, A.; Carbonell, P.; Turner, G.; Haan, E.; Sutherland, G.; Mulley, J. |