Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)
de Barcelos, Isabella Peixoto, Woidill, Sarah, Gavazzi, Francesco, Modesti, Nicholson B., Sevagamoorthy, Anjana, Vanderver, Adeline, Adang, Laura
Published in Molecular genetics and metabolism (01.05.2024)
Published in Molecular genetics and metabolism (01.05.2024)
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Early recognition of patients with leukodystrophies
Modesti, Nicholson B., Evans, Sarah Helen, Jaffe, Nicole, Vanderver, Adeline, Gavazzi, Francesco
Published in Current problems in pediatric and adolescent health care (01.12.2022)
Published in Current problems in pediatric and adolescent health care (01.12.2022)
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Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome
Cusack, Stacy V, Gavazzi, Francesco, de Barcelos, Isabella Peixoto, Modesti, Nicholson B, Woidill, Sarah, Formanowski, Brielle, DeMauro, Sara B, Lorch, Scott, Vincent, Ariel, Jawad, Abbas F, Estilow, Timothy, Glanzman, Allan M, Vanderver, Adeline, Adang, Laura A
Published in Journal of child neurology (01.03.2024)
Published in Journal of child neurology (01.03.2024)
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Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
Adang, Laura Ann, Sevagamoorthy, Anjana, Sherbini, Omar, Fraser, Jamie L., Bonkowsky, Joshua L., Gavazzi, Francesco, D'Aiello, Russel, Modesti, Nicholson B., Yu, Emily, Mutua, Sylvia, Kotes, Emma, Shults, Justine, Vincent, Ariel, Emrick, Lisa T., Keller, Stephanie, Van Haren, Keith P., Woidill, Sarah, Barcelos, Isabella, Pizzino, Amy, Schmidt, Johanna L., Eichler, Florian, Fatemi, Ali, Vanderver, Adeline
Published in Molecular genetics and metabolism (01.05.2024)
Published in Molecular genetics and metabolism (01.05.2024)
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