Generation of a Mouse Model to Study the Noonan Syndrome Gene Lztr1 in the Telencephalon

by Mary Jo Talley, Diana Nardini, Nisha Shabbir, Lisa A. Ehrman, Carlos E. Prada, Carlos E. Prada, Ronald R. Waclaw, Ronald R. Waclaw, Ronald R. Waclaw
Published 2021-06-01

Case report: Childhood erythrocytosis due to hypermanganesemia caused by homozygous SLC30A10 mutation

by Tiziana Coppola, Hannah Hughes, Paul T. Finch, Joshua A. Hess, Steve Wu, Steve Wu, Carlos E. Prada, Carlos E. Prada, Alexander G. Miethke, Alexander G. Miethke, Wenying Zhang, Wenying Zhang, Theodosia A. Kalfa, Theodosia A. Kalfa
Published 2024-03-01

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation

by Laura Guilder, Carlos E. Prada, Sofia Saenz, Shailly Jain-Ghai, Natalya Karp, George Mazariegos, Suzanne Ratko, Ramona Salvarinova, Saadet Mercimek-Andrews
Published 2021-06-01

Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development

by Eliyahu Perl, Padmapriyadarshini Ravisankar, Manu E. Beerens, Lejla Mulahasanovic, Kelly Smallwood, Marion Bermúdez Sasso, Carina Wenzel, Thomas D. Ryan, Matej Komár, Kevin E. Bove, Calum A. MacRae, K. Nicole Weaver, Carlos E. Prada, Joshua S. Waxman
Published 2022-07-01

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

by Dianne Laboy Cintron, Alison M. Muir, Abbey Scott, Marie McDonald, Kristin G. Monaghan, Teresa Santiago-Sim, Ingrid M. Wentzensen, Chiara De Luca, Francesco Brancati, David J. Harris, Cecilia Goueli, Rolf Stottmann, Carlos E. Prada, Marta Biderman Waberski, Heather C. Mefford
Published 2022-01-01

Fe de errores de «Hipercolesterolemia familiar: artículo de revisión»

by Alonso Merchán, Álvaro J. Ruiz, Rafael Campo, Carlos E. Prada, Juan M. Toro, Robinson Sánchez, Juan E. Gómez, Nicolás I. Jaramillo, Dora I. Molina, Hernando Vargas-Uricoechea, Sherien Sixto, Javier M. Castro, Adalberto E. Quintero, Mauricio Coll, Stase Slotkus, Andrés Ramírez, Harry Pachajoa, Fernando A. Ávila, Rodrigo Alonso K
Published 2016-09-01

Hipercolesterolemia familiar: artículo de revisión

by Alonso Merchán, Álvaro J. Ruiz, Rafael Campo, Carlos E. Prada, Juan M. Toro, Robinson Sánchez, Juan E. Gómez, Nicolás I. Jaramillo, Dora I. Molina, Hernando Vargas-Uricoechea, Sherien Sixto, Javier M. Castro, Adalberto E. Quintero, Mauricio Coll, Stase Slotkus, Andrés Ramírez, Harry Pachajoa, Fernando A. Ávila, Rodrigo Alonso K
Published 2016-06-01

POLRMT mutations impair mitochondrial transcription causing neurological disease

by Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren I. Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia A. Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, Robert W. Taylor
Published 2021-02-01