Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews von 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 von 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 von 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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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene von Ebberink, Merel S, Csanyi, Barbara, Chong, Wui K, Denis, Simone, Sharp, Peter, Mooijer, Petra A W, Dekker, Conny J M, Spooner, Claire, Ngu, Lock H, De Sousa, Carlos, Wanders, Ronald J A, Fietz, Michael J, Clayton, Peter T, Waterham, Hans R, Ferdinandusse, Sacha

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Screening patients referred to a metabolic clinic for lysosomal storage disorders von Fuller, Maria, Tucker, Justin N, Lang, Debbie L, Dean, Caroline J, Fietz, Michael J, Meikle, Peter J, Hopwood, John J

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Diagnosis of lysosomal storage disorders: current techniques and future directions von Meikle, Peter J, Fietz, Michael J, Hopwood, John J

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Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile von 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 von 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 von 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 von Fietz, M.J. (University of Oxford, Oxford, UK), McLaughlan, C.J, Campbell, M.T, Rogers, G.E

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Mapping of the Trichohyalin Gene: Co-Localization with the Profilaggrin, Involucrin, and Loricrin Genes von Fietz, Michael J, Rogers, George E, Eyre, Helen J, Baker, Elizabeth, Callen, David F, Sutherland, Grant R

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The hedgehog gene family in Drosophila and vertebrate development von Fietz, Michael J., Concordet, Jean-Paul, Barbosa, Robert, Johnson, Randy, Krauss, Stefan, McMahon, Andrew P., Tabin, Cliff, lngham, Philip W.

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Trichohyalin and Matrix Proteins von 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 von Fietz, Michael J., Presland, Richard B., Rogers, George E.

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

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Trichohyalin and Matrix Proteinsa von 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 von 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 von 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 von 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 von Wolf, Michael J., Ebner, Christof, Fietz, Walter H., Heller, Reinhard, Nickel, Daniel, Weiss, Klaus-Peter

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