Genetic and reproductive consequences of consanguineous marriage in Bangladesh von Anwar, Saeed, Taslem Mourosi, Jarin, Arafat, Yasir, Hosen, Mohammad Jakir

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GESTURES OF CARE AND RECOGNITION: An Introduction von CUBELLIS, LAUREN

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SYMPATHETIC CARE von CUBELLIS, LAUREN

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Care Wounds: Precarious Vulnerability and the Potential of Exposure von Cubellis, Lauren

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Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease von Mauhin, Wladimir, Benveniste, Olivier, Amelin, Damien, Montagner, Clémence, Lamari, Foudil, Caillaud, Catherine, Douillard, Claire, Dussol, Bertrand, Leguy-Seguin, Vanessa, D'Halluin, Pauline, Noel, Esther, Zenone, Thierry, Matignon, Marie, Maillot, François, Ly, Kim-Heang, Besson, Gérard, Willems, Marjolaine, Labombarda, Fabien, Masseau, Agathe, Lavigne, Christian, Lacombe, Didier, Maillard, Hélène, Lidove, Olivier

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Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment von Larizza, Lidia, Cubellis, Maria Vittoria

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The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations von Citro, Valentina, Cammisa, Marco, Liguori, Ludovica, Cimmaruta, Chiara, Lukas, Jan, Cubellis, Maria Vittoria, Andreotti, Giuseppina

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Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations von Liguori, Ludovica, Monticelli, Maria, Allocca, Mariateresa, Hay Mele, Bruno, Lukas, Jan, Cubellis, Maria Vittoria, Andreotti, Giuseppina

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Ethnography in Health Services Research: Oscillation Between Theory and Practice von Cubellis, Lauren, Schmid, Christine, von Peter, Sebastian

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The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification... von Citro, Valentina, Cimmaruta, Chiara, Monticelli, Maria, Riccio, Guglielmo, Hay Mele, Bruno, Cubellis, Maria Vittoria, Andreotti, Giuseppina

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A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG von Citro, Valentina, Cimmaruta, Chiara, Liguori, Ludovica, Viscido, Gaetano, Cubellis, Maria Vittoria, Andreotti, Giuseppina

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Fetal growth patterns in Beckwith-Wiedemann syndrome von Mussa, A., Russo, S., de Crescenzo, A., Freschi, A., Calzari, L., Maitz, S., Macchiaiolo, M., Molinatto, C., Baldassarre, G., Mariani, M., Tarani, L., Bedeschi, M.F., Milani, D., Melis, D., Bartuli, A., Cubellis, M.V., Selicorni, A., Silengo, M.C., Larizza, L., Riccio, A., Ferrero, G.B.

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Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2 von Andreotti, Giuseppina, Monti, Maria Chiara, Citro, Valentina, Cubellis, Maria Vittoria

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Congenital disorders of glycosylation: narration of a story through its patents von Monticelli, Maria, D'Onofrio, Tania, Jaeken, Jaak, Morava, Eva, Andreotti, Giuseppina, Cubellis, Maria Vittoria

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ReBaTSA: A simplified CeTSA protocol for studying recombinant mutant proteins in bacterial extracts von Monticelli, Maria, Wright, Demi Marie, Cubellis, Maria Vittoria, Andreotti, Giuseppina

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Merging Intentional Peer Support and Dialogic Practice: Implementation Lessons From Parachute NYC von Hopper, Kim, Van Tiem, Jennifer, Cubellis, Lauren, Pope, Leah

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Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease von Citro, Valentina, Peña-García, Jorge, den-Haan, Helena, Pérez-Sánchez, Horacio, Del Prete, Rosita, Liguori, Ludovica, Cimmaruta, Chiara, Lukas, Jan, Cubellis, Maria Vittoria, Andreotti, Giuseppina

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β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Diso... von Monticelli, Maria, Liguori, Ludovica, Allocca, Mariateresa, Andreotti, Giuseppina, Cubellis, Maria Vittoria

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Differences in Adherence to American Heart Association's Life's Essential 8, Diet Quality, and Weight Loss Strategies Between Those With and Without Recent Clinically Significant W... von Hill, Emily B, Cubellis, Lauren T, Wexler, Randell K, Taylor, Christopher A, Spees, Colleen K

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Evaluation of the change in efficacy of erenumab when used long‐term for migraine prevention after initial established benefit in a veteran population von Martin, Alison W., Cubellis, Mara

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