Publications

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Auteur Title [ Type(Asc)] Année
Filtres: Auteur is Kolobova, Ilaria  [Enlever les filtres]
Journal Article
Bell S, Peng H, Crapper L, Kolobova I, Maussion G, Vasuta C, Yerko V, Wong TPan, Ernst C.  2017.  A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing.. Stem Cells Transl Med. 6(3):886-896.
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Théroux J-F, Jefri M, Tanti A, Wu H, Kolobova I et al..  2019.  Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. The American Journal of Human Genetics.
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Théroux J-F, Jefri M, Tanti A, Wu H, Kolobova I et al..  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.
Bell S, Kolobova I, Crapper L, Ernst C.  2016.  Lesch-Nyhan Syndrome: Models, Theories, and Therapies.. Mol Syndromol. 7(6):302-311.
Bell S, McCarty V, Peng H, Jefri M, Hettige N, Antonyan L, Crapper L, O'Leary LA, Zhang X, Zhang Y et al..  2021.  Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.. Stem Cell Reports. 16(7):1749-1762.
Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NMenjot et al..  2017.  Implication of LRRC4C and DPP6 in neurodevelopmental disorders.. Am J Med Genet A. 173(2):395-406.
Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NMenjot et al..  2017.  Cover Image, Volume 173A, Number 2, February 2017.. Am J Med Genet A. 173(2):i.