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Semiquantitative assessment of skeletal response to enzyme replacement therapy for Gaucher's disease using the bone marrow burden scoreROBERTSON, Patricia L; MAAS, Mario; GOLDBLATT, Jack et al.American journal of roentgenology (1976). 2007, Vol 188, Num 6, pp 1521-1528, issn 0361-803X, 8 p.Article

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A C.1019A > G Mutation in FGFR2, Which Predicts p.Tyr340Cys, in a Lethally Malformed Fetus With Pfeiffer Syndrome and Multiple PterygiaBAYNAM, Gareth; SMITH, Nicholas; GOLDBLATT, Jack et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 17, pp 2301-2303, issn 1552-4825, 3 p.Article

Codon 200 mutation of the prion gene: genotype―phenotype correlationsPANEGYRES, Peter K; GOH, Judy G. S; GOLDBLATT, Jack et al.Journal of neurology. 2012, Vol 259, Num 12, pp 2579-2584, issn 0340-5354, 6 p.Article

Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatmentWEINREB, Neal J; GOLDBLATT, Jack; VILLALOBOS, Jacobo et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 3, pp 543-553, issn 0141-8955, 11 p.Article

Determining the frequency of de novo germline mutations in DNA mismatch repair genesKO WIN, Aung; A JENKINS, Mark; M LINDOR, Noralane et al.Journal of medical genetics. 2011, Vol 48, Num 8, pp 530-534, issn 0022-2593, 5 p.Article

Associations of the IL12B promoter polymorphism in longitudinal data from asthmatic patients 7 to 42 years of ageKHOO, Siew-Kim; HAYDEN, Catherine M; ROBERTS, Mary et al.Journal of allergy and clinical immunology. 2004, Vol 113, Num 3, pp 475-481, issn 0091-6749, 7 p.Article

Human Rhinovirus Species C Infection in Young Children with Acute Wheeze Is Associated with Increased Acute Respiratory Hospital AdmissionsCOX, Desmond W; BIZZINTINO, Joelene; GERN, James E et al.American journal of respiratory and critical care medicine. 2013, Vol 188, Num 11, pp 1358-1364, issn 1073-449X, 7 p.Article

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A Recurrence of a Hydrop Lethal Skeletal Dysplasia Showing Similarity to Desbuquois Dysplasia and a Proposed New Sign: The Upsilon SignBAYNAM, Gareth; KIRALY-BORRI, Cathy; GOLDBLATT, Jack et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 4, pp 966-969, issn 1552-4825, 4 p.Article

IgE and IgG anti-house dust mite specificities in allergic diseaseHALES, Belinda J; MARTIN, Andrew C; PEARCE, Leigh J et al.Journal of allergy and clinical immunology. 2006, Vol 118, Num 2, pp 361-367, issn 0091-6749, 7 p.Article

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Parental smoking impairs vaccine responses in children with atopic genotypesBAYNAM, Gareth; KHOO, Siew-Kim; HOLT, Patrick et al.Journal of allergy and clinical immunology. 2007, Vol 119, Num 2, pp 366-374, issn 0091-6749, 9 p.Article

Waiver of individual patient consent in research : when do potential benefits to the community outweigh private rights?ZEPS, Nikolajs; IACOPETTA, Barry J; SCHOFIELD, Lyn et al.Medical journal of Australia. 2007, Vol 186, Num 2, pp 88-90, issn 0025-729X, 3 p.Article

Acute asthma in children : Relationships among CD14 and CC16 genotypes, plasma levels, and severityMARTIN, Andrew C; LAING, Ingrid A; LESOUËF, Peter N et al.American journal of respiratory and critical care medicine. 2006, Vol 173, Num 6, pp 617-622, issn 1073-449X, 6 p.Article

Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patientsWEINREB, Neal J; AGGIO, Mario C; IDA, Hiroyuki et al.Seminars in hematology. 2004, Vol 41, Num 4, pp 15-22, issn 0037-1963, 8 p., SUP5Article

The role of parasites in genetic susceptibility to allergy: IgE, helminthic infection and allergy, and the evolution of the human immune systemHAGEL, Isabel; DI PRISCO, Maria Cristina; GOLDBLATT, Jack et al.Clinical reviews in allergy and immunology. 2004, Vol 26, Num 2, pp 75-83, issn 1080-0549, 9 p.Article

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Lynch Syndrome―Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family RegistryWASH, Michael D; BUCHANAN, Daniel D; JENKINS, Mark A et al.Clinical cancer research (Print). 2010, Vol 16, Num 7, pp 2214-2224, issn 1078-0432, 11 p.Article

A pilot study of trimodality breast imaging surveillance in young women at high risk of breast cancer in Western AustraliaSAUNDERS, Christobel M; PETERS, Gudrun; ANDERSON, James et al.Medical journal of Australia. 2009, Vol 191, Num 6, pp 330-333, issn 0025-729X, 4 p.Article