Showing results 72 to 91 of 91
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| Preview | Issue Date | Title | Author(s) |
| 2008 | Self-Esteem, Self-Concept, and Quality of Life in Children with Hemiplegic Cerebral Palsy | Russo, R.; Goodwin, E.; Miller, M.; Haan, E.; Connell, T.; Crotty, M. |
| 1998 | SHORT syndrome: distinctive radiographic features | Haan, E.; Morris, L. |
| 2009 | Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2 | Ghalamkarpour, A.; Debauche, C.; Haan, E.; Van Regemorter, N.; Snzajer, Y.; Thomas, D.; Revencu, N.; Gillerot, Y.; Boon, L.; Vikkula, M. |
| 2009 | SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype | Spurlock, G.; Bennett, E.; Chuzhanova, N.; Thomas, N.; H-Ping, J.; Side, L.; Davies, S.; Haan, E.; Kerr, B.; Huson, S.; Upadhyaya, M. |
| 2002 | Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies | Baker, E.; Hinton, L.; Callen, D.; Altree, M.; Dobbie, A.; Eyre, H.; Sutherland, G.; Thompson, E.; Thompson, P.; Woollatt, E.; Haan, E. |
| 2015 | Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability | Grozeva, D.; Carss, K.; Spasic-Boskovic, O.; Tejada, M.; Gecz, J.; Shaw, M.; Corbett, M.; Haan, E.; Thompson, E.; Friend, K.; Hussain, Z.; Hackett, A.; Field, M.; Renieri, A.; Stevenson, R.; Schwartz, C.; Floyd, J.; Bentham, J.; Cosgrove, C.; Keavney, B.; et al. |
| 2005 | The Hunter-McAlpine syndrome results from duplication 5q35-qter | Hunter, A.; DuPont, B.; McLaughlin, M.; Hinton, L.; Baker, E.; Ades, L.; Haan, E.; Schwartz, C. |
| 2000 | The impact of maternal serum screening on the birth prevalence of Down's syndrome and the use of amniocentesis and chorionic villus sampling in South Australia | Cheffins, T.; Chan, A.; Haan, E.; Ranieri, E.; Ryall, R.; Keane, R.; Byron-Scott, R.; Scott, H.; Gjerde, E.; Nguyen, A.; Ford, J.; Sykes, S. |
| 1998 | The impact of rubella immunisation on the incidence of rubella, congenital rubella syndrome and rubella-related terminations of pregnancy in South Australia | Cheffins, T.; Chan, A.; Keane, R.; Haan, E.; Hall, R. |
| 2002 | The risk of mortality or cerebral palsy in twins: A collaborative population-based study | Scher, A.; Petterson, B.; Blair, E.; Ellenberg, J.; Grether, J.; Haan, E.; Reddihough, D.; Yeargin-Allsopp, M.; Nelson, K. |
| 1995 | The sensitivity of ultrasound and serum alpha-fetoprotein in population-based antenatal screening for neural tube defects, South Australia 1986-1991 | Chan, A.; Robertson, E.; Haan, E.; Ranieri, E.; Keane, R. |
| 2002 | The use of audiotapes in consultations with women from high risk breast cancer families: a randomised trial | Lobb, E.; Butow, P.; Meiser, B.; Barratt, A.; Kirk, J.; Gattas, M.; Haan, E.; Tucker, K. |
| 1997 | The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies | D'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. |
| 2007 | Trends in state/population-based Down syndrome screening and invasive prenatal testing with the introduction of first-trimester combined Down syndrome screening, South Australia, 1995-2005 | Muller, P.; Cocciolone, R.; Haan, E.; Wilkinson, C.; Scott, H.; Sage, L.; Bird, R.; Hutchinson, R.; Chan, A. |
| 2011 | TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families | Andreucci, E.; Aftimos, S.; Alcausin, M.; Haan, E.; Hunter, W.; Kannu, P.; Kerr, B.; McGillivray, G.; McKinlay Gardner, R.; Patricelli, M.; Sillence, D.; Thompson, E.; Zacharin, M.; Zankl, A.; Lamande, S.; Savarirayan, R. |
| 2007 | Upper-limb botulinum toxin A injection and occupational therapy in children with hemiplegic cerebral palsy identified from a population register: A single-blind, randomized, controlled trial | Russo, R.; Crotty, M.; Miller, M.; Murchland, S.; Flett, P.; Haan, E. |
| 1998 | What constitutes cerebral palsy? | Badawi, N.; Watson, L.; Petterson, B.; Blair, E.; Slee, J.; Haan, E.; Stanley, F. |
| 2015 | Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy | McMichael, G.; Bainbridge, M.; Haan, E.; Corbett, M.; Gardner, A.; Thompson, S.; Van Bon, B.; Van Eyk, C.; Broadbent, J.; Reynolds, C.; O'Callaghan, M.; Nguyen, L.; Adelson, D.; Russo, R.; Jhangiani, S.; Doddapaneni, H.; Muzny, D.; Gibbs, R.; Gecz, J.; MacLennan, A. |
| 1999 | X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation | Woffendin, H.; Jakins, T.; Jouet, M.; Stewart, H.; Landy, S.; Haan, E.; Harris, A.; Donnai, D.; Read, A.; Kenwrick, S. |
| 2003 | X-linked myotubular myopathy in a family with three adult survivors | Yu, S.; Manson, J.; White, S.; Bourne, A.; Waddy, H.; Davis, M.; Haan, E. |
