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| Preview | Issue Date | Title | Author(s) |
| 2013 | C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients | Dobson-Stone, C.; Hallupp, M.; Loy, C.; Thompson, E.; Haan, E.; Sue, C.; Panegyres, P.; Razquin, C.; Seijo-Martinez, M.; Ramon, R.; Gascon, J.; Campdelacreu, J.; Schmoll, B.; Volk, A.; Brooks, W.; Schofield, P.; Pastor, P.; Kwok, J.; Wider, C. |
| 2012 | CCDC22: a novel candidate gene for syndromic X-linked intellectual disability | Voineagu, J.; Huang, L.; Winden, K.; Lazaro, M.; Haan, E.; Nelson, J.; McGaughran, J.; Nguyen, L.; Friend, K.; Hackett, A.; Field, M.; Gecz, J.; Geschwind, D. |
| 1996 | Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome | Ades, L.; Haan, E.; Colley, A.; Richards, R. |
| 1997 | Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy | Smith, A.; Marks, R.; Haan, E.; Dixon, J.; Trent, R. |
| 1996 | Clinicopathologic features of congenital aneurysms of the great vessels | Ades, L.; Knight, W.; Byard, R.; Bateman, J.; Esquivel, J.; Mee, R.; Haan, E.; Milewicz, D. |
| 2008 | Combining first and second trimester markers for Down syndrome screening: Think twice | Cocciolone, R.; Brameld, K.; OLeary, P.; Haan, E.; Muller, P.; Shand, K. |
| 2004 | Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes | Lobb, E.; Butow, P.; Barratt, A.; Meiser, B.; Gaff, C.; Young, M.; Haan, E.; Suthers, G.; Gattas, M.; Tucker, K. |
| 2010 | CP or not CP? A review of diagnoses in a cerebral palsy register | Zarrinkalam, R.; Russo, R.; Gibson, C.; van Essen, P.; Peek, A.; Haan, E. |
| 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. |
| 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. |
| 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. |
| 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. |
| 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. |
| 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. |
