Showing results 94 to 113 of 144
< previous
next >
| Preview | Issue Date | Title | Author(s) |
| 2008 | Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndrome | Laforest, C.; Leibovitch, I.; Selva-Nayagam, D.; Crompton, J.; Haan, E. |
| 1995 | Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (∆F508) | Cui, K.H.; Haan, E.; Wang, L.J.; Matthews, C. |
| 1999 | Origins of accessory small ring marker chromosomes derived from chromosome 1 | Callen, D.; Eyre, H.; Fang, Y.; Guan, X.; Veleba, A.; Martin, N.; McGill, J.; Haan, E. |
| 2010 | Osteopathia Striata with cranial sclerosis owing to WTX gene defect | Perdu, B.; de Freitas, F.; Frints, S.; Schouten, M.; Schrander-Stumpel, C.; Barbosa, M.; Pinto-Basto, J.; Reis-Lima, M.; de Vernejoul, M.; Becker, K.; Freckmann, M.; Keymolin, K.; Haan, E.; Savarirayan, R.; Koenig, B.; Zabel, B.; Vanhoenacker, F.; Van Hul, W. |
| 2008 | Pain characteristics and their association with quality of life and self-concept in children with hemiplegic cerebral palsy identified from a population register | Russo, R.; Miller, M.; Haan, E.; Cameron, I.; Crotty, M. |
| 2003 | PEHO and PEHO-like syndromes: Report of five Australian cases | Field, M.; Grattan-Smith, P.; Piper, S.; Thompson, E.; Haan, E.; Edwards, M.; James, S.; Wilkinson, I.; Ades, L. |
| 1997 | Perinatal risk factors for developmental dysplasia of the hip | Chan, A.; McCaul, K.; Cundy, P.; Haan, E.; Byron-Scott, R. |
| 1998 | Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene | Gibson, M.; Ellis, S.; Ades, L.; Haan, E.; Cleary, E. |
| 1995 | Prenatal exposure to phenytoin, facial development and a possible role for vitamin K | Howe, A.; Lipson, A.; Sheffield, L.; Haan, E.; Halliday, J.; Jensen, F.; David, D.; Webster, W. |
| 2003 | Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene | Davis, M.; Haan, E.; Jungbluth, H.; Sewry, C.; North, K.; Muntoni, F.; Kuntzer, T.; Lamont, P.; Bankier, A.; Tomlinson, P.; Sanchez, A.; Walsh, P.; Nagarajan, L.; Oley, C.; Colley, A.; Gedeon, A.; Quinlivan, R.; Dixon, J.; James, D.; Muller, C.; et al. |
| 2012 | PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome | Heron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al. |
| 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. |
