Browsing by Author Weaving, Linda

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Issue DateTitleAuthor(s)Citation
2007Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1Christodoulou, John; Ouvrier, Robert; Banning, Martijn J G; de Brouwer, Arjan P. M.; Donald, Jennifer A; Duley, John; Egmont-Peterson, Michael; Hamel, Ben C J; Lugtenberg, Dorien; Nabuurs, Sander B; Roeffen, Melissa; van Bokhoven, Hans; van Kuilenburg, Andre B P; Weaving, Linda; Wevers, Ron A.; Williams, Kelly; Zoetekouw, Lida; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthArts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1, American Journal of Human Genetics, vol.81,(3),2007,pp 507-518
2003Effects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotypeBennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Weaving, Linda; Davis, Mark; Delatycki, Martin; Laing, Nigel G.; Leonard, Helen; Thompson, Elizabeth M.; Thong, Meow-Keong; Williamson, Sarah L; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthEffects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotype, American Journal of Medical Genetics Part A, vol.118A,(N/A),2003,pp 103-114
2005Health service use in Rett syndrome.Christodoulou, John; Weaving, Linda; Colvin, Lyn; Davis, Mark; de Klerk, Nick; Fyfe, Susan; Leonard, Helen; Moore, Hannah; Mulroy, Seonaid; Robertson, ID; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthHealth service use in Rett syndrome., Journal of child neurology, vol.20,(1),2005,pp 42-50
2003MECP2 and Beyond: Phenotype—Genotype Correlations in Rett SyndromeChristodoulou, John; Weaving, Linda; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMECP2 and Beyond: Phenotype—Genotype Correlations in Rett Syndrome, Journal of child neurology, vol.18,(10),2003,pp 669-674
2004Mutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation.Bennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Lahooti, Hooshang; Pelka, G; Tam, Patrick; Watson, Catherine; Weaving, Linda; Williamson, Susan; Archer, Hayley; Clarke, Angus; Evans, Julie; Friend, Kathie L; Gecz, Jozef; Leonard, Helen; McKenzie, Olivia L D; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Nepean Clinical School: Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Medicine Faculty OfficeMutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation., American Journal of Human Genetics, vol.75,(N/A),2004,pp 1079-1093
2004Trisomy 21 And Rett Syndrome: A Double BurdenChristodoulou, John; Weaving, Linda; Delatycki, Martin; Eastaugh, P.; Engerstrom, I. Witt; Leonard, Helen; Smith, Lucia; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthTrisomy 21 And Rett Syndrome: A Double Burden, Journal of Paediatrics and Child Health, vol.40,(7),2004,pp 406-409
2010Twist2: Role in Corneal Stromal Keratocyte Proliferation and Corneal ThicknessGrigg, John; Jamieson, Robyn; Mihelec, Marija; Storen, Rebecca; Tam, Patrick; Weaving, Linda; Sosic, Drazen; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthTwist2: Role in Corneal Stromal Keratocyte Proliferation and Corneal Thickness, Investigative Ophthalmology & Visual Science, vol.51, 11,pp 5561-5570