检索结果 - Prada, Carlos E.

Endothelial dysfunction and preeclampsia: role of oxidative stress 由 Sánchez-Aranguren, Lissette C., Prada, Carlos E., Riaño-Medina, Carlos E., Lopez, Marcos

获取全文 获取全文 获取全文

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy 由 McTiernan, Nina, Gill, Harinder, Prada, Carlos E., Pachajoa, Harry, Lores, Juliana, Arnesen, Thomas

获取全文 获取全文 获取全文

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis 由 Velasco, Harvy M., Ullah, Ehsan, Martin, Angela M., Hufnagel, Robert B., Prada, Carlos E.

获取全文 获取全文 获取全文

Determination of Anti-Adeno-Associated Viral Vector Neutralizing Antibodies in Patients With Heart Failure in the Cardiovascular Foundation of Colombia (ANVIAS): Study Protocol 由 Rincon, Melvin Y, Prada, Carlos E, Lopez, Marcos, Castillo, Victor, Echeverria, Luis Eduardo, Serrano, Norma

获取全文 获取全文 获取全文

A role for sustained MAPK activity in the mouse ventral telencephalon 由 Talley, Mary Jo, Nardini, Diana, Qin, Shenyue, Prada, Carlos E., Ehrman, Lisa A., Waclaw, Ronald R.

获取全文 获取全文 获取全文

Generation of a Mouse Model to Study the Noonan Syndrome Gene Lztr1 in the Telencephalon 由 Talley, Mary Jo, Nardini, Diana, Shabbir, Nisha, Ehrman, Lisa A., Prada, Carlos E., Waclaw, Ronald R.

获取全文 获取全文 获取全文

Widespread Vasculopathy in a Patient with Morquio A Syndrome 由 Powell, Adam W., Taylor, Michael D., Burrow, T. Andrew, Hopkin, Robert J., Prada, Carlos E., Jefferies, John L.

获取全文 获取全文 获取全文

ZAP-70 is a novel conditional heat shock protein 90 (Hsp90) client: inhibition of Hsp90 leads to ZAP-70 degradation, apoptosis, and impaired signaling in chronic lymphocytic leukem... 由 Castro, Januario E., Prada, Carlos E., Loria, Olivier, Kamal, Adeela, Chen, Liguang, Burrows, Francis J., Kipps, Thomas J.

获取全文 获取全文 获取全文

An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist 由 Mena, Rafael, Mendoza, Esperanza, Peña, Maria Gomez, Valencia, C. Alexander, Ullah, Ehsan, Hufnagel, Robert B., Prada, Carlos E.

获取全文 获取全文 获取全文

Clinical Utility of Whole-Exome Sequencing in Rare Diseases: Galactosialidosis 由 Prada, Carlos E., Gonzaga-Jauregui, Claudia, Tannenbaum, Rebecca, Penney, Samantha, Lupski, James R., Hopkin, Robert J., Sutton, V. Reid

获取全文 获取全文 获取全文

Substantial Pain Burden in Frequency, Intensity, Interference and Chronicity among Children and Adults with Neurofibromatosis Type 1 Pain and NF1 由 Kongkriangkai, Alanna M., King, Christopher, Martin, Lisa J., Wakefield, Emily, Prada, Carlos E., Kelly-Mancuso, Geraldine, Schorry, Elizabeth K.

获取全文 获取全文 获取全文

CD154 induces p73 to overcome the resistance to apoptosis of chronic lymphocytic leukemia cells lacking functional p53 由 Dicker, Frank, Kater, Arnon P., Prada, Carlos E., Fukuda, Tetsuya, Castro, Januario E., Sun, Guizhen, Wang, Jean Y., Kipps, Thomas J.

获取全文 获取全文 获取全文

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation 由 Guilder, Laura, Prada, Carlos E., Saenz, Sofia, Jain-Ghai, Shailly, Karp, Natalya, Mazariegos, George, Ratko, Suzanne, Salvarinova, Ramona, Mercimek-Andrews, Saadet

获取全文 获取全文 获取全文

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1 由 Prada, Carlos E., Hufnagel, Robert B., Hummel, Trent R., Lovell, Anne M., Hopkin, Robert J., Saal, Howard M., Schorry, Elizabeth K.

获取全文 获取全文 获取全文

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females 由 Clarkston, Kathryn, Lee, Joy, Donoghue, Sarah, Peters, Heidi, Eiroa, Hernan, Shah, Amit A., Loomes, Kathleen, Wen, Jessica, Oliver, Mark, Hardikar, Winita, Prada, Carlos E., Asai, Akihiro

获取全文 获取全文 获取全文

CNS, Lung, and Lymph Node involvement in Gaucher disease type 3 after 11 years of therapy: Clinical, Histopathologic, and Biochemical Findings 由 Burrow, Thomas A, Sun, Ying, Prada, Carlos E, Bailey, Laurie, Zhang, Wujuan, Brewer, Amanda, Wu, Steve W., Setchell, Kenneth D R, Witte, David, Cohen, Mitchell B, Grabowski, Gregory A

获取全文 获取全文 获取全文

Ophthalmic genetics in South America 由 Varela, Malena Daich, Moya, Rene, Schlottmann, Patricio G., Hufnagel, Robert B., Arberas, Claudia, Fernández, Federico M., Inga, M. Eugenia, Lores, Juliana, Pachajoa, Harry, Prada, Carlos E., Sallum, Juliana M. Ferraz

获取全文 获取全文 获取全文

Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition 由 Prada, Carlos E., Jousma, Edwin, Rizvi, Tilat A., Wu, Jianqiang, Dunn, R. Scott, Mayes, Debra A., Cancelas, Jose A., Dombi, Eva, Kim, Mi-Ok, West, Brian L., Bollag, Gideon, Ratner, Nancy

获取全文 获取全文 获取全文

Stx4 is required to regulate cardiomyocyte Ca(2+) handling during vertebrate cardiac development 由 Perl, Eliyahu, Ravisankar, Padmapriyadarshini, Beerens, Manu E., Mulahasanovic, Lejla, Smallwood, Kelly, Sasso, Marion Bermúdez, Wenzel, Carina, Ryan, Thomas D., Komár, Matej, Bove, Kevin E., MacRae, Calum A., Weaver, K. Nicole, Prada, Carlos E., Waxman, Joshua S.

获取全文 获取全文 获取全文

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay 由 Laboy Cintron, Dianne, Muir, Alison M., Scott, Abbey, McDonald, Marie, Monaghan, Kristin G., Santiago-Sim, Teresa, Wentzensen, Ingrid M., De Luca, Chiara, Brancati, Francesco, Harris, David J., Goueli, Cecilia, Stottmann, Rolf, Prada, Carlos E., Biderman Waberski, Marta, Mefford, Heather C.

获取全文 获取全文 获取全文