Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews by Lew, Raelia M, Proos, Anne L, Burnett, Leslie, Delatycki, Martin, Bankier, Agnes, Fietz, Michael J

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Newborn screening for lysosomal storage disorders by Meikle, Peter J., Grasby, Dallas J., Dean, Caroline J., Lang, Debbie L., Bockmann, Michelle, Whittle, Alison M., Fietz, Michael J., Simonsen, Henrik, Fuller, Maria, Brooks, Douglas A., Hopwood, John J.

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Klinefelter Syndrome with Fabry Disease – a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive Mutation by Sadick, Victoria J., BAppSc(Hons), Fietz, Michael J., PhD, Tchan, Michel C., MBBS, PhD, Kovoor, Pramesh, MBBS, PhD, Thomas, Liza, MBBS, PhD, Sadick, Norman, MBBS, PhD

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Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile by Kohan, Romina, Muller, Vivien J, Fietz, Michael J, Cismondi, Adriana I, Oller Ramírez, Ana M, Halac, Inés Noher

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Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant‐negative mechanism by Hime, Gary R., Lada, Hania, Fietz, Michael J., Gillies, Susan, Passmore, Abraham, Wicking, Carol, Wainwright, Brandon J.

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Correlation among Genotype, Phenotype, and Biochemical Markers in Gaucher Disease: Implications for the Prediction of Disease Severity by Whitfield, Phillip D., Nelson, Paul, Sharp, Peter C., Bindloss, Colleen A., Dean, Caroline, Ravenscroft, Elaine M., Fong, Beverley A., Fietz, Michael J., Hopwood, John J., Meikle, Peter J.

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Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin the the hair follicle by Fietz, M.J. (University of Oxford, Oxford, UK), McLaughlan, C.J, Campbell, M.T, Rogers, G.E

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Trichohyalin and Matrix Proteins by ROGERS, GEORGE E., FIETZ, MICHAEL J., FRATINI, ANTONIO

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The cDNA-Deduced Amino Acid Sequence for Trichohyalin, A Differentiation Marker in the Hair Follicle, Contains a 23 Amino Acid Repeat by Fietz, Michael J., Presland, Richard B., Rogers, George E.

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Clustered Arrangement of Keratin Intermediate Filament Genes by Powell, Barry C., Cam, Graham R., Fietz, Michael J., Rogers, George E.

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Trichohyalin and Matrix Proteinsa by ROGERS, GEORGE E., FIETZ, MICHAEL J., FRATINI, ANTONIO

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HTS CroCo: A Stacked HTS Conductor Optimized for High Currents and Long-Length Production by Wolf, Michael J., Fietz, Walter H., Bayer, Christoph M., Schlachter, Sonja I., Heller, Reinhard, Weiss, Klaus-Peter

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A critical assessment of thermal-hydraulic modeling of HTS twisted-stacked-tape cable conductors for fusion applications by Zappatore, Andrea, Fietz, Walter H, Heller, Reinhard, Savoldi, Laura, Wolf, Michael J, Zanino, Roberto

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Quench Analysis of the HTS CrossConductor for a Toroidal Field Coil by Heller, Reinhard, Blanchier, Paul, Fietz, Walter H., Wolf, Michael J.

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High temperature superconductors for fusion applications and new developments for the HTS CroCo conductor design by Wolf, Michael J., Ebner, Christof, Fietz, Walter H., Heller, Reinhard, Nickel, Daniel, Weiss, Klaus-Peter

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High-Current HTS Cables: Status and Actual Development by Fietz, Walter H., Wolf, Michael J., Preuss, Alan, Heller, Reinhard, Weiss, Klaus-Peter

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Mechanical and Electro-Mechanical Investigations of Assembled HTS CroCo Triplets by Nickel, Daniel S., Wolf, Michael J., Weiss, Klaus-Peter, Fietz, Walter H.

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Reel-to-Reel Fabrication of HTS CroCo Strands and Test of HTS CroCo Demonstrator Coils by Heiduk, Mathias, Wolf, Michael J., Fietz, Walter H.

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Design and analysis of HTS subsize-conductors for quench investigations towards future HTS fusion magnets by Wolf, Michael J., Heller, Reinhard, Fietz, Walter H., Weiss, Klaus-Peter

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Subscale HTS Fusion Conductor Fabrication and Testing in High Magnetic Background Field by Nickel, D. S., Bagrets, N., Fietz, W. H., Lange, C., Weiss, K. -P., Wolf, M. J.

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