Publications
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A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing.. Stem Cells Transl Med. 6(3):886-896.
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2017. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. The American Journal of Human Genetics.
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2019. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.. Am J Hum Genet. 104(5):815-834.
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2019. Lesch-Nyhan Syndrome: Models, Theories, and Therapies.. Mol Syndromol. 7(6):302-311.
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2016. Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.. Stem Cell Reports. 16(7):1749-1762.
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2021. Implication of LRRC4C and DPP6 in neurodevelopmental disorders.. Am J Med Genet A. 173(2):395-406.
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2017. Cover Image, Volume 173A, Number 2, February 2017.. Am J Med Genet A. 173(2):i.
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