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Found 3 results
Author Title Type [ Year(Desc)]
Filters: Author is Kholmanskikh, Stanislav S  [Clear All Filters]
2014
Mirzaa G, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S et al..  2014.  De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.. Nat Genet. 46(5):510-515.
2019
Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet J-B, Carmignac V, Garret P et al..  2019.  Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.. Nat Genet.
Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet J-B, Carmignac V, Garret P et al..  2019.  Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.. Nat Genet.