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Results: 1-20 |
Results: 20
Microlissencephaly with cardiac, spinal and urogenital defects
Authors: Gardner, RJM Savarirayan, R Dunne, KB McLellan, JA Coleman, LT Suthers, GK
Citation: Rjm. Gardner et al., Microlissencephaly with cardiac, spinal and urogenital defects, CLIN DYSMOR, 10(3), 2001, pp. 203-208
Clinical features of a large Australian pedigree with episodic ataxia type1
Authors: Hand, PJ Gardner, RJM Knight, MA Forrest, SM Storey, E
Citation: Pj. Hand et al., Clinical features of a large Australian pedigree with episodic ataxia type1, MOVEMENT D, 16(5), 2001, pp. 938-939
Near-total absence of the cerebellum
Authors: Gardner, RJM Coleman, LT Mitchell, LA Smith, LJ Harvey, AS Scheffer, IE Storey, E Nowotny, MJ Sloane, RA Lubitz, L
Citation: Rjm. Gardner et al., Near-total absence of the cerebellum, NEUROPEDIAT, 32(2), 2001, pp. 62-68
New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness
Authors: Amor, DJ Delatycki, MB Gardner, RJM Storey, E
Citation: Dj. Amor et al., New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness, AM J MED G, 99(1), 2001, pp. 29-33
A new autosomal dominant pure cerebellar ataxia
Authors: Storey, E Gardner, RJM Knight, MA Kennerson, ML Tuck, RR Forrest, SM Nicholson, GA
Citation: E. Storey et al., A new autosomal dominant pure cerebellar ataxia, NEUROLOGY, 57(10), 2001, pp. 1913-1915
Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness
Authors: Dahl, HHM Saunders, K Kelly, TM Osborn, AH Wilcox, S Cone-Wesson, B Wunderlich, JL Du Sart, D Kamarinos, M Gardner, RJM Dennehy, S Williamson, R Vallance, N Mutton, P
Citation: Hhm. Dahl et al., Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness, MED J AUST, 175(4), 2001, pp. 191-194
Chromosomal abnormalities in idiopathic congenital bilateral vocal cord paralysis
Authors: Berkowitz, RG Bankier, A Moxham, JP Gardner, RJM
Citation: Rg. Berkowitz et al., Chromosomal abnormalities in idiopathic congenital bilateral vocal cord paralysis, ANN OTOL RH, 110(7), 2001, pp. 624-626
Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2
Authors: Kennerson, ML Zhu, D Gardner, RJM Storey, E Merory, J Robertson, SP Nicholson, GA
Citation: Ml. Kennerson et al., Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2, AM J HU GEN, 69(4), 2001, pp. 883-888
High frequency hearing loss correlated with mutations in the GJB2 gene
Authors: Wilcox, SA Saunders, K Osborn, AH Arnold, A Wunderlich, J Kelly, T Collins, V Wilcox, LJ Gardner, RJM Kamarinos, M Cone-Wesson, B Williamson, R Dahl, HHM
Citation: Sa. Wilcox et al., High frequency hearing loss correlated with mutations in the GJB2 gene, HUM GENET, 106(4), 2000, pp. 399-405
Syntelencephaly presenting with spastic diplegia
Authors: Coleman, LT McCubbin, JP Smith, LJ Reddihough, DS Gardner, RJM
Citation: Lt. Coleman et al., Syntelencephaly presenting with spastic diplegia, NEUROPEDIAT, 31(4), 2000, pp. 206-210
Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia
Authors: Storey, E du Sart, D Shaw, JH Lorentzos, P Kelly, L Gardner, RJM Forrest, SM Biros, I Nicholson, GA
Citation: E. Storey et al., Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia, AM J MED G, 95(4), 2000, pp. 351-357
Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy
Authors: Savarirayan, R Gardner, RJM Sinclair, RD McDowell, M Cleaver, JE
Citation: R. Savarirayan et al., Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy, J MED GENET, 37(4), 2000, pp. 312-314
Chromosomal duplication of band 10p14 segregating through four generations
Authors: Voullaire, L Gardner, RJM Vaux, C Robertson, A Oertel, R Slater, H
Citation: L. Voullaire et al., Chromosomal duplication of band 10p14 segregating through four generations, J MED GENET, 37(3), 2000, pp. 233-237
Early-onset Alzheimer's disease caused by a novel mutation at codon 219 ofthe presenilin-1 gene
Authors: Smith, MJ Gardner, RJM Knight, MA Forrest, SM Beyreuther, K Storey, E McLean, CA Cotton, RGH Cappal, R Masters, CL
Citation: Mj. Smith et al., Early-onset Alzheimer's disease caused by a novel mutation at codon 219 ofthe presenilin-1 gene, NEUROREPORT, 10(3), 1999, pp. 503-507
Clinical and genetic study of Friedreich ataxia in an Australian population
Authors: Delatycki, MB Paris, DBBP Gardner, RJM Nicholson, GA Nassif, N Storey, E MacMillan, JC Collins, V Williamson, R Forrest, SM
Citation: Mb. Delatycki et al., Clinical and genetic study of Friedreich ataxia in an Australian population, AM J MED G, 87(2), 1999, pp. 168-174
E-cadherin unlikely to be a common "low penetrance" gene for colorectal cancer
Authors: Gardner, RJM Gaff, CL Macrae, FA St John, DJB Hopkins, J Guilford, PJ Reeve, AE
Citation: Rjm. Gardner et al., E-cadherin unlikely to be a common "low penetrance" gene for colorectal cancer, AM J MED G, 84(2), 1999, pp. 169-171
What's in a name?
Authors: Gardner, RJM
Citation: Rjm. Gardner, What's in a name?, AM J MED G, 84(2), 1999, pp. 178-178
Connexin26 deafness in several interconnected families
Authors: Wilcox, SA Osborn, AH Allen-Powell, DR Maw, MA Dahl, HHM Gardner, RJM
Citation: Sa. Wilcox et al., Connexin26 deafness in several interconnected families, J MED GENET, 36(5), 1999, pp. 383-385
Spinocerebellar ataxia type 2 - Clinical features of a pedigree displayingprominent frontal-executive dysfunction
Authors: Storey, E Forrest, SM Shaw, JH Mitchell, P Gardner, RJM
Citation: E. Storey et al., Spinocerebellar ataxia type 2 - Clinical features of a pedigree displayingprominent frontal-executive dysfunction, ARCH NEUROL, 56(1), 1999, pp. 43-50
The spectrum of mutations in TBX3: Genotype phenotype relationship in ulnar-mammary syndrome
Authors: Bamshad, M Le, T Watkins, WS Dixon, ME Kramer, BE Roeder, AD Carey, JC Root, S Schinzel, A Van Maldergem, L Gardner, RJM Lin, RC Seidman, CE Seidman, JG Wallerstein, R Moran, E Sutphen, R Campbell, CE Jorde, LB
Citation: M. Bamshad et al., The spectrum of mutations in TBX3: Genotype phenotype relationship in ulnar-mammary syndrome, AM J HU GEN, 64(6), 1999, pp. 1550-1562
Risultati: 1-20 |