360 Retrospective Evaluation of Whole-Exome Sequencing in Puerto Ricans with Neurogenetic Complex Traits

por Albino, Elinette, Carlo, Simon, Chapel-Crespo, Cristel, Santiago-Cornier, Alberto, Buxo, Carmen
Publicado 2022

Continuation of pegvaliase treatment during pregnancy: A case report

por Boyer, Monica, Skaar, Janette, Sowa, Mary, Tureson, Justin R., Chapel-Crespo, Cristel C., Chang, Richard
Publicado 2021

Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency

por Chapel-Crespo, Cristel C., Villalba, Ricardo, Wang, Raymond, Boyer, Monica, Chang, Richard, Waterham, Hans R., Abdenur, Jose E.
Publicado 2020

323 Perceived Stress and Access to Care in Parents of Children Living a Diagnostic Odyssey in Puerto Rico

por Albino, Elinette M, Martinez, Karen, Carlo, Simon, Chapel-Crespo, Cristel, Ortiz, Antonio, Santiago-Cornier, Alberto, Velez-Bartolomei, Frances, Buxo, Carmen
Publicado 2023