Résumé Introduction-Le déficit en glucose-6-phosphate déshydrogénase (G6PD), anomalie enzymatique héréditaire la plus fréquente dans le monde, présente une variabilité géographique et génétique justifiant l’établissement de références locales. Cette
Rima Laskri +7 more
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Evaluation of the contribution of trio-exome sequencing in selected prenatal indications. [PDF]
Chretien M +49 more
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Transmission of an environmental modification in quails across three generations: changes in the contribution to phenotypic variability. [PDF]
Rousse S +8 more
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Large phenotypic variability with severe respiratory involvement in <i>MEGF10</i>-related myopathies: Description of three cases. [PDF]
Pennisi A +10 more
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Update on ADHD genetics: A practitioner's perspective: Mise à jour sur la génétique du TDAH : le point de vue d'un praticien. [PDF]
Schachar R +3 more
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Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies. [PDF]
Santini A +49 more
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Inhibition of SUV39H1 as a potent therapeutic target in multiple myeloma. [PDF]
Alibert L +14 more
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Cutis Marmorata Telangiectatica Congenita: An Atypical Clinical Presentation of Vascular Anomalies. [PDF]
El Fekih I +4 more
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Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy. [PDF]
de Feraudy Y +24 more
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