Challenges of Phenotype-Genotype Correlations in Rare Diseases von Masten, Margaux C, Augustine, Erika F, Mink, Jonathan W

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The CLN3 Disease Staging System: A new tool for clinical research in Batten disease von Masten, Margaux C., Williams, Justin D., Vermilion, Jennifer, Adams, Heather R., Vierhile, Amy, Collins, Alyssa, Marshall, Frederick J., Augustine, Erika F., Mink, Jonathan W.

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A diagnostic confidence scheme for CLN3 disease von Masten, Margaux C., Corre, Camille, Paciorkowski, Alex R., Vierhile, Amy, Adams, Heather R., Vermilion, Jennifer, Zimmerman, Grace A., Augustine, Erika F., Mink, Jonathan W.

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Epidemiology and Access to Expert Care for the Neuronal Ceroid Lipofuscinoses (NCL) (1878) von Masten, Margaux C., van wijngaarden, Edwin, Augustine, Erika F., Mink, Jonathan W.

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Genotype-phenotype associations in CLN3 disease von Masten, Margaux C., Vierhile, Amy, Vermilion, Jennifer, Adams, Heather R., Augustine, Erika F., Mink, Jonathan W.

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Epidemiology and access to expert care for the neuronal ceroid lipofuscinoses (NCLs) von Masten, Margaux C., van Wijngaarden, Edwin, Augustine, Erika F., Mink, Jonathan W.

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Diagnostic Confidence for CLN3 Disease (Juvenile Batten Disease) (1863) von Masten, Margaux C., Vierhile, Amy, Vermilion, Jennifer, Adams, Heather R., Zimmerman, Grace A., Corre, Camille, Augustine, Erika F., Mink, Jonathan W.

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Hamburg Late Infantile neuronal ceroid lipofucinosis scale (H-LINCLS) vs. the Unified Batten Disease Rating Scale (UBDRS): Comparison and cross-validation von Masten, Margaux C., Adams, Heather R., Vierhile, Amy, Augustine, Erika F., Mink, Jonathan W.

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Diagnostic confidence for CLN3 disease von Masten, Margaux C., Vierhile, Amy, Vermilion, Jennifer, Adams, Heather, Zimmerman, Grace A., Corre, Camille, Mink, Jonathan W., Augustine, Erika F.

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CLN1 disease natural history data: Prospective and retrospective analysis von Masten, Margaux C., Thatcher, Alyssa, Bonifacio, Kristen, Vierhile, Amy, Adams, Heather R., Mink, Jonathan W., Augustine, Erika F.

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Cross-sectional and longitudinal quantification of CLN3 disease progression von Mink, Jonathan W., Masten, Margaux C., Vermilion, Jennifer, Adams, Heather R., Vierhile, Amy, Marshall, Frederick J., Beck, Christopher A., Augustine, Erika F.

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The CLN3 Disease Staging System (CLN3SS): A tool for stratification based on disease severity von Masten, Margaux C., Williams, Justin D., Augustine, Erika F., Vermilion, Jennifer, Adams, Heather R., Vierhile, Amy, Thatcher, Alyssa, Marshall, Frederick J., Mink, Jonathan W.

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Age-at-onset of core features of CLN3 disease: A cross-sectional and longitudinal natural history study von Masten, Margaux C., Vermilion, Jennifer, Adams, Heather R., Vierhile, Amy, Marshall, Frederick J., Beck, Christopher A., Augustine, Erika F., Mink, Jonathan W.

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Challenges of Phenotype-Genotype Correlations in Rare Diseases\Challenges of Phenotype-Genotype Correlations in Rare Diseases-Reply von Masten, Margaux C, Augustine, Erika F, Mink, Jonathan W, Smirnov, Vasily M, Zeitz, Christina, Audo, Isabelle

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