Browsing by Author Ma, Alan

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Issue DateTitleAuthor(s)Citation
2014CHARGE syndrome: A reviewMa, Alan; Munns, Craig; Wilson, Meredith; Curotta, J; Hsu, Peter; Mehr, Sam; Williams, George; School of Medical Sciences: Pathology; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthCHARGE syndrome: A review, Journal of Paediatrics and Child Health, vol.50, 7, 2014,pp 504-511
2014Extreme growth failure is a common presentation of ligase IV deficiencyAdes, Lesley; Ma, Alan; Albert, Michael; Bicknell, Louise; Duker, Angela; et al, Various; Haghayegh, Sara; Kayserili, Hulya; Murray, Jennie; Van Kogelenberg, Margriet; Wieczorek, Dagmar; Wise, Carol; Yigit, Gokhan; Childrens Hospital Westmead: Paediatrics & Child Health; School of Medical Sciences: PathologyExtreme growth failure is a common presentation of ligase IV deficiency, Human Mutation, vol.35, 1, 2014,pp 76-85
2016The Immune Phenotype of Patients with CHARGE SyndromeBarnes, Elizabeth; Ma, Alan; Munns, Craig; Wilson, Meredith; Hoefsloot, Lies; Hsu, Peter; Mehr, Sam; Rinne, Tuula; Williams, George; Wong, Melanie; NH&MRC Clinical Trials Centre; Children's Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe Immune Phenotype of Patients with CHARGE Syndrome, The Journal of Allergy and Clinical Immunology: In Practice, vol.4, 1, 2016,pp 96-103e.2
2015Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organizationBecker, Thomas; Cheng, Anson; Greenlees, Rebecca; Grigg, John; Jamieson, Robyn; Loebel, David; Ma, Alan; Mihelec, Marija; Nash, Benjamin; Prokudin, Ivan; Rinkwitz, Silke; Speidel, Daniel; Tam, Patrick; Yousoof, Saira Bahnu Mohamed; Black, Graeme C M; Clayton-Smith, Jill; Gillespie, Rachel; Lloyd, I. Christopher; Perveen, Rahat; Semina, Elena; Wu, Selwin K; Yap, Alpha; School of Medical Sciences: Brain and Mind Centre; Central Clinical School: Save Sight & Eye Health Inst.; Biological Sciences; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; School of Medical Sciences: Pathology; Central Clinical School: Save Sight & Eye Health Inst.; Children's Hospital Westmead: Childrens Medical Research Ins; Central Clinical School: Ophthalmology & Eye Health; School of Medical Sciences: Brain and Mind Centre; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; SAHCS: Clinical Ophthalmology and Eye HealthMutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization, Human Molecular Genetics, vol.24, 20, 2015,pp 5789-5804
2016Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseClarke, Nigel; Ghaoui, Roula; Lek, Monkol; Ma, Alan; Menezes, Manoj; O'Grady, Gina Louise; MacArthur, Daniel; Needham, Merrilee; North, Kathryn N; Peduto, Anthony J.; Sival, Deborah; van Ravenswaaij-Arts, Conny MA; Waddell, Leigh; Wong, Monica TY; Young, Helen; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthProminent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease, European Journal of Human Genetics, vol.24, 8, 2016,pp 1216-1219
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