Showing results 49 to 68 of 91
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| Preview | Issue Date | Title | Author(s) |
| 1995 | Localization of craniosynostosis Adelaide type to 4p16 | Hollway, G.; Phillips, H.; Ades, L.; Haan, E.; Muley, J. |
| 2011 | Lung disease associated with periventricular nodular heterotopia and an FLNA mutation | Masurel-Paulet, A.; Haan, E.; Thompson, E.; Goizet, C.; Thauvin-Robinet, C.; Tai, A.; Kennedy, J.; Smith, G.; Khong, T.; Sole, G.; Guerineau, E.; Coupry, I.; Huet, F.; Robertson, S.; Faivre, L. |
| 1995 | Maternal serum screening and prenatal diagnosis for birth defects | Suthers, G.; Haan, E. |
| 2012 | Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene | Nagy, R.; Wang, H.; Albrecht, B.; Wieczorek, D.; Gillessen-Kaesbach, G.; Haan, E.; Meinecke, P.; de la Chapelle, A.; Westman, J. |
| 1997 | Mutation detection in FGFR2 craniosynostosis syndromes | Hollway, G.; Suthers, G.; Haan, E.; Thompson, E.; David, D.; Gecz, J.; Mulley, J. |
| 2011 | Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I | He, H.; Liyanarachchi, S.; Akagi, K.; Nagy, R.; Li, J.; Dietrich, R.; Li, W.; Sebastian, N.; Wen, B.; Xin, B.; Singh, J.; Yan, P.; Alder, H.; Haan, E.; Wieczorek, D.; Albrecht, B.; Puffenberger, E.; Wang, H.; Westman, J.; Padgett, R.; et al. |
| 2014 | Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth | Homan, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L. |
| 2012 | New mutations and sporadic intellectual disability | Gecz, J.; Haan, E. |
| 2000 | New mutations in MID1 provide support for loss of function as the cause of X-linked Optiz syndrome | Cox, T.; Allen, L.; Cox, L.; Hopwood, B.; Goodwin, B.; Haan, E.; Suthers, G. |
| 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. |
