Search Results - "Donesana, Myriam"
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Expanding the Spectrum of Autosomal Dominant ATP6V1A -Related Disease: Case Report and Literature Review
Published in Genes (18-09-2024)“…Developmental and epileptic encephalopathies (DEE) are a group of disorders often linked to de novo mutations, including those in the gene. These mutations,…”
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Journal Article -
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How pediatric resident's life has changed during the COVID-19 pandemic
Published in Italian journal of pediatrics (16-10-2020)“…Since the World Health Organization declared Coronavirus Disease 2019 (COVID-19) a global pandemic, a few articles were published on the working experience of…”
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Journal Article