7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance

by Delgado, Sara, Velinov, Milen
Published 2015

Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis

by Donnelier, Julien, Braun, Samuel T., Dolzhanskaya, Natalia, Ahrendt, Eva, Braun, Andrew P., Velinov, Milen, Braun, Janice E. A.
Published 2015

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

by Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan
Published 2012

Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

by Velinov, Milen, Dolzhanskaya, Natalia, Gonzalez, Michael, Powell, Eric, Konidari, Ioanna, Hulme, William, Staropoli, John F., Xin, Winnie, Wen, Guang Y., Barone, Rosemary, Coppel, Scott H., Sims, Katherine, Brown, W. Ted, Züchner, Stephan
Published 2012