Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency

Por Esse, Ruben, Imbard, Apolline, Florindo, Cristina, Gupta, Sapna, Quinlivan, Eoin P., Davids, Mariska, Teerlink, Tom, Tavares de Almeida, Isabel, Kruger, Warren D., Blom, Henk J., Castro, Rita
Publicado em 2014

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

Por Davids, Mariska, Kane, Megan S, He, Miao, Wolfe, Lynne A, Li, Xueli, Raihan, Mohd A, Chao, Katherine R, Bone, William P, Boerkoel, Cornelius F, Gahl, William A, Toro, Camilo
Publicado no J Med Genet (2015)

Rationale and design of a proof-of-concept trial investigating the effect of uninterrupted perioperative (par)enteral nutrition on amino acid profile, cardiomyocytes structure, and...

Por Visser, Marlieke, Davids, Mariska, Verberne, Hein J, Kok, Wouter EM, Niessen, Hans WM, van Venrooij, Lenny MW, Cocchieri, Riccardo, Wisselink, Willem, de Mol, Bas AJM, van Leeuwen, Paul AM
Publicado em 2011

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation

Por Kane, Megan S., Davids, Mariska, Adams, Christopher, Wolfe, Lynne A., Cheung, Helen W., Gropman, Andrea, Huang, Yan, Ng, Bobby G., Freeze, Hudson H., Adams, David R., Gahl, William A., Boerkoel, Cornelius F.
Publicado no Am J Hum Genet (2016)

Defective ciliogenesis in INPP5E-related Joubert syndrome

Por Hardee, Isabel, Soldatos, Ariane, Davids, Mariska, Vilboux, Thierry, Toro, Camilo, David, Karen L., Ferreira, Carlos R., Nehrebecky, Michele, Snow, Joseph, Thurm, Audrey, Heller, Theo, Macnamara, Ellen F., Gunay-Aygun, Meral, Zein, Wadih M., Gahl, William, Malicdan, May Christine V.
Publicado no Am J Med Genet A (2017)

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 no Cilia (2017)

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Por Chao, Hsiao-Tuan, Davids, Mariska, Burke, Elizabeth, Pappas, John G., Rosenfeld, Jill A., McCarty, Alexandra J., Davis, Taylor, Wolfe, Lynne, Toro, Camilo, Tifft, Cynthia, Xia, Fan, Stong, Nicholas, Johnson, Travis K., Warr, Coral G., Yamamoto, Shinya, Adams, David R., Markello, Thomas C., Gahl, William A., Bellen, Hugo J., Wangler, Michael F., Malicdan, May Christine V.
Publicado no Am J Hum Genet (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 no Front Med (Lausanne) (2017)