Search Results - "Ragusa, Giulia"
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1
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
Published in Genes (12-03-2022)“…Epileptic encephalopathies (EEs) and developmental and epileptic encephalopathies (DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs)…”
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Journal Article -
2
What Is the Exact Contribution of IPITX1/I and ITBX4/I Genes in Clubfoot Development? An Italian Study
Published in Genes (01-10-2022)“…Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be…”
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Journal Article -
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What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study
Published in Genes (27-10-2022)“…Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be…”
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Journal Article