Browsing by Author Holman, Katerine

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Issue DateTitleAuthor(s)Citation
2004Detection Of Thirty Novel FBN1 Mutations In Patients With Marfan Syndrome Or A Related Fibrillinopathy.Ades, Lesley; Bennetts, Bruce; Biggin, Andrew; Brett, Maggie S.; Holman, Katerine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDetection Of Thirty Novel FBN1 Mutations In Patients With Marfan Syndrome Or A Related Fibrillinopathy., Human Mutation, vol.23,(1),2004,pp 99-106
2003Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism databaseAdes, Lesley; Ala-Kokko, Leena; Booms, Patrick; Boxer, Maureen; Child, Anne; Collod-Beroud, Gwenaelle; Comeglio, Paolo; De Paepe, Anne; et, al; Holman, Katerine; Hyland, James C; Le Bourdelles, Saga; Children's Hospital Westmead: Paediatrics & Child HealthUpdate of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database, Human Mutation, vol.22,(3),2003,pp 199-208