Showing results 19 to 38 of 144
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| Preview | Issue Date | Title | Author(s) |
| 2003 | Birth prevalence of Prader-Willi syndrome in Australia | Smith, A.; Egan, J.; Ridley, G.; Haan, E.; Montgomery, P.; Williams, K.; Elliott, E. |
| 2000 | Breast cancer screening uptake in women at increased risk of developing hereditary breast cancer | Meiser, B.; Butow, P.; Barratt, A.; Friedlander, M.; Kirk, J.; Gaff, C.; Haan, E.; Aittomaki, K.; Tucker, K. |
| 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. |
| 2007 | Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms | Kern, J.; Herz, C.; Haan, E.; Moore, D.; Nottelmann, S.; von Lilien, T.; Greiner, P.; Schmitt-Graeff, A.; Opitz, O.; Bruckner-Tuderman, L.; Has, C. |
| 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. |
| 2014 | Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH | Nicholl, J.; Waters, W.; Mulley, J.C.; Suwalski, S.; Brown, S.; Hull, Y.; Barnett, C.; Haan, E.; Thompson, E.M.; Liebelt, J.; Mcgregor, L.; Harbord, M.G.; Entwistle, J.; Munt, C.; White, D.; Chitti, A.; Baulderstone, D.; Ketteridge, D.; Array Referral Consortium,; Friend, K.; et al. |
| 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. |
| 2012 | Cytomegalovirus and Epstein–Barr virus may be associated with some cases of cerebral palsy | McMichael, G.; MacLennan, A.; Gibson, C.; Alvino, E.; Goldwater, P.; Haan, E.; Dekker, G. |
| 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. |
