Showing results 105 to 124 of 144
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| Preview | Issue Date | Title | Author(s) |
| 2013 | Rare copy number variation in cerebral palsy | McMichael, G.; Girirajan, S.; Moreno-De-Luca, A.; Gecz, J.; Shard, C.; Nguyen, L.; Nicholl, J.; Gibson, C.; Haan, E.; Eichler, E.; Martin, C.; MacLennan, A. |
| 2003 | Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: A cause of minute terminal chromosomal imbalances | Daniel, A.; Baker, E.; Chia, N.; Haan, E.; Malafiej, P.; Hinton, L.; Clarke, N.; Ades, L.; Darmanian, A.; Callen, D. |
| 1997 | Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene | Sampson, J.; Maheshwar, M.; Aspinwall, R.; Thompson, P.; Cheadle, J.; Ravine, D.; Roy, S.; Haan, E.; Bernstein, J.; Harris, P. |
| 2012 | Reproductive technologies and the risk of birth defects | Davies, M.; Moore, V.; Willson, K.; van Essen, P.; Priest, K.; Scott, H.; Haan, E.; Chan, A. |
| 2012 | Reproductive technologies and the risk of birth defects | Davies, M.; Moore, V.; Willson, K.; Van Essen, P.; Priest, K.; Scott, H.; Haan, E.; Chan, A. |
| 2012 | Reproductive technologies and the risk of birth defects: The Authors reply | Davies, M.; Moore, V.; Haan, E. |
| 2012 | Reproductive technologies: the alchemy of life | Davies, M.; Haan, E. |
| 2013 | RPGR mutations might cause reduced orientation of respiratory cilia | Bukowy-Blerytto, Z.; Zletkiewicz, E.; Loges, N.; Wittmer, M.; Geremek, M.; Olbrich, H.; Filegauf, M.; Voelkel, K.; Rutkiewicz, E.; Rutland, J.; Morgan, L.; Pogorzelski, A.; Martin, A.; Haan, E.; Berger, W.; Omran, H.; Witt, M. |
| 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. |
| 2013 | Single-nucleotide polymorphism associations with preterm delivery: a case-control replication study and meta-analysis | O'Callaghan, M.; MacLennan, A.; McMichael, G.; Haan, E.; Dekker, G. |
| 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. |
| 2003 | SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease | Pountney, D.; Huang, Y.; Burns, R.; Haan, E.; Thompson, P.; Blumbergs, P.; Gai, W. |
| 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. |
| 2006 | The association between inherited cytokine polymorphisms and cerebral palsy | Gibson, C.; MacLennan, A.; Goldwater, P.; Haan, E.; Priest, K.; Dekker, G.; Hague, W.; Morton, M. |
| 2011 | The Australian cerebral palsy research study - Protocol for a national collaborative study investigating genomic and clinical associations with cerebral palsy | O'Callaghan, M.; MacLennan, A.; Gibson, C.; McMichael, G.; Haan, E.; Broadbent, J.; Priest, K.; Goldwater, P.; Dekker, G. |
| 2003 | The clinical geneticist and the "new genetics" | Haan, E. |
| 2009 | The genomic basis of cerebral palsy: A HuGE systematic literature review | O'Callaghan, M.; MacLennan, A.; Haan, E.; Dekker, G. |
