Browsing by Author Mowat, David

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Showing results 1 to 11 of 11
Issue DateTitleAuthor(s)Citation
2012The behavioral phenotype of Mowat-Wilson syndromeEinfeld, Stewart; Evans, Elizabeth; Wilson, Meredith; Mowat, David; Taffe, John R.; Tonge, Bruce; Disability and Community; Psychology; Children's Hospital Westmead: Paediatrics & Child HealthThe behavioral phenotype of Mowat-Wilson syndrome, American Journal of Medical Genetics. Part A, vol.158a, 2, 2012,pp 358-366
2014Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disabilityEinfeld, Stewart; Turner, Gill; Mowat, David; Mullan, Glenda L.; Palmer, Emma; Spiers, Helen; Taylor, Peter; Tonge, Bruce; Disability and Community; Not knownChanging interpretation of chromosomal microarray over time in a community cohort with intellectual disability, American Journal of Medical Genetics. Part A, vol.164, 2, 2014,pp 377-385
2012Chromosome microarray in Australia: a guide for paediatriciansPeters, Gregory; Mowat, David; Palmer, Elizabeth; Children's Hospital Westmead: Paediatrics & Child HealthChromosome microarray in Australia: a guide for paediatricians, Journal of Paediatrics and Child Health, vol.48, 2, 2012,pp E59-E67
2008Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severityNorth, Kathryn; Peat, Rachel; Adams, Naomi E.; Baker, Naomi L.; Bateman, John F; Irving, Melita; Lamande, Shireen R.; Lamont, Phillipa J; Mathews, Katherine D; Moore, Stephen A; Morgelin, Matthias; Mowat, David; Pace, Rishika A.; Smith, Nicholas C; Zamurs, Laura; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: MedicineCollagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity, Annals of Neurology, vol.64,(3),2008,pp 294-303
2017Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental OutcomeShand, Antonia; Chung, Clara; Cooper, Stephen G; Harrison, King; Kennedy, Sean; Lawson, John; Mowat, David; Riney, Kate; Sarkozy, Vanessa; Wargon, Orli; School of Public Health: Public HealthEarly Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome, Pediatric Neurology, vol.76, N/A, 2017,pp 20-26
2004Genetic diagnosis revisited in an epidemiological cohort of young people with intellectual disability (ID).Einfeld, Stewart; Field, M; Fleischer, R; Mowat, David; Tonge, B J; Turner, G; Occupation & Leisure SciencesGenetic diagnosis revisited in an epidemiological cohort of young people with intellectual disability (ID)., N/A, vol.48,(),2004,pp 288-288
2013Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patientsCollins, Felicity; Wilson, Meredith; Colley, Alison; Cox, Timothy; Elakis, George; et al, Various; Gabbett, Michael; Haan, Eric; Hackett, Emma; Kirk, Edwin; Le, Trang; Moon, David; Mowat, David; Roscioli, Tony; Sachdev, Rani; Thompson, Elizabeth; Turner, Anne Marie; Venselaar, Hanka; Worgan, L; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthGenotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol.163, 4, 2013,pp 259-270
2017Incontinence and psychological symptoms in individuals with Mowat-Wilson SyndromeEinfeld, Stewart; Curfs, Leopold; Equit, Monika; Mowat, David; Niemczyk, Justine; Von Gontard, Alexander; Wagner, Catharina; Disability and CommunityIncontinence and psychological symptoms in individuals with Mowat-Wilson Syndrome, Research in Developmental Disabilities, vol.62, N/A, 2017,pp 230-237
2016Sleep Disturbance in Mowat-Wilson SyndromeEinfeld, Stewart; Wilson, Meredith; Evans, Elizabeth; Mowat, David; Disability and Community; Childrens Hospital Westmead: Paediatrics & Child HealthSleep Disturbance in Mowat-Wilson Syndrome, American Journal of Medical Genetics. Part A, vol.170A, 3, 2016,pp 654-660
2016Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation SequencingBennetts, Bruce; Billson, Frank; Cheng, Anson; Christodoulou, John; Flaherty, Maree; Fraser, Clare; Grigg, John; Jamieson, Robyn; Ma, Alan; Martin, Frank; Prokudin, Ivan; Farnsworth, Elizabeth; Ho, Gladys; Holman, katherine; Mowat, David; Smith, James; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Medical Research Institute (CMRI); Children's Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Medical Research Institute (CMRI)Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation Sequencing, Human Mutation, vol.37, 4, 2016,pp 371-384
2016Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3Brewer, Megan Hwa; Chaudhry, Rabia; Kennerson, Marina; Menezes, Manoj; Nicholson, Garth; Qi, Jessica; Young, Helen Kathryn; Drew, Alexander P; Farrar, Michelle A; Kidambi, Aditi; Mowat, David; Reddel, Stephen; Ryan, Monique; Subramanian, Gopinath M; Zuchner, Stephan; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Clinical and Rehabilitation Sciences; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: Pathology; Childrens Hospital Westmead: Paediatrics & Child HealthWhole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3, PLoS Genetics, vol.12, 7, 2016,pp Article number e1006177-N/A