Requirements for Efficient Proteolytic Cleavage of Prelamin A by ZMPSTE24

por Barrowman, Jemima, Hamblet, Corinne, Kane, Megan S., Michaelis, Susan
Publicado 2012

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants

por Kane, Megan S., Diamonstein, Callie J., Hauser, Natalie, Deeken, John F., Niederhuber, John E., Vilboux, Thierry
Publicado 2019

The Krüppel-like factor 2 and Krüppel-like factor 4 genes interact to maintain endothelial integrity in mouse embryonic vasculogenesis

por Chiplunkar, Aditi R, Curtis, Benjamin C, Eades, Gabriel L, Kane, Megan S, Fox, Sean J, Haar, Jack L, Lloyd, Joyce A
Publicado 2013

Abnormal glycosylation in Joubert syndrome type 10

por Kane, Megan S., Davids, Mariska, Bond, Michelle R., Adams, Christopher J., Grout, Megan E., Phelps, Ian G., O’Day, Diana R., Dempsey, Jennifer C., Li, Xeuli, Golas, Gretchen, Vezina, Gilbert, Gunay-Aygun, Meral, Hanover, John A., Doherty, Dan, He, Miao, Malicdan, May Christine V., Gahl, William A., Boerkoel, Cornelius F.
Publicado 2017

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

por Gall, Timothy, Valkanas, Elise, Bello, Christofer, Markello, Thomas, Adams, Christopher, Bone, William P., Brandt, Alexander J., Brazill, Jennifer M., Carmichael, Lynn, Davids, Mariska, Davis, Joie, Diaz-Perez, Zoraida, Draper, David, Elson, Jeremy, Flynn, Elise D., Godfrey, Rena, Groden, Catherine, Hsieh, Cheng-Kang, Fischer, Roxanne, Golas, Gretchen A., Guzman, Jessica, Huang, Yan, Kane, Megan S., Lee, Elizabeth, Li, Chong, Links, Amanda E., Maduro, Valerie, Malicdan, May Christine V., Malik, Fayeza S., Nehrebecky, Michele, Park, Joun, Pemberton, Paul, Schaffer, Katherine, Simeonov, Dimitre, Sincan, Murat, Smedley, Damian, Valivullah, Zaheer, Wahl, Colleen, Washington, Nicole, Wolfe, Lynne A., Xu, Karen, Zhu, Yi, Gahl, William A., Tifft, Cynthia J., Toro, Camillo, Adams, David R., He, Miao, Robinson, Peter N., Haendel, Melissa A., Zhai, R. Grace, Boerkoel, Cornelius F.
Publicado 2017