A familial case of CAMK2B mutation with variable expressivity

por Heiman, Paige, Drewes, Sarah, Ghaloul-Gonzalez, Lina
Publicado 2021

Natural history of propionic acidemia in the Amish population

por Ehrenberg, Sarah, Walsh Vockley, Catherine, Heiman, Paige, Ammous, Zineb, Wenger, Olivia, Vockley, Jerry, Ghaloul-Gonzalez, Lina
Publicado 2022

Mitochondrial dysfunction associated with TANGO2 deficiency

por Heiman, Paige, Mohsen, Al-Walid, Karunanidhi, Anuradha, St Croix, Claudette, Watkins, Simon, Koppes, Erik, Haas, Richard, Vockley, Jerry, Ghaloul-Gonzalez, Lina
Publicado 2022

Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach

por Wolfe, Rachel M., Mohsen, Al‐Walid, Walsh Vockley, Cate, Bertrand, Carol A., Nicholls, Robert D., Heiman, Paige, Seibold, Leah M., Vockley, Jerry, Ghaloul‐Gonzalez, Lina
Publicado 2021

ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction

por Wolfe, Rachel, Heiman, Paige, D'Annibale, Olivia, Karunanidhi, Anuradha, Powers, Alyssa, Mcguire, Marianne, Seminotti, Bianca, Dobrowolski, Steven F., Reyes-Múgica, Miguel, Torok, Kathryn S., Mohsen, Al-Walid, Vockley, Jerry, Ghaloul-Gonzalez, Lina
Publicado 2022