Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome
Penon‐Portmann, Monica, Westbury, Sarah K., Li, Ling, Pluthero, Fred G., Liu, Richard J. Y., Yao, Helen H. Y., Geng, Ryan S. Q., Warner, Neil, Muise, Aleixo M., Lotz‐Esquivel, Stephanie, Howell‐Ramirez, Marianela, Saborío‐Chacon, Pablo, Fernández‐Rojas, Sara, Saborio‐Rocafort, Manuel, Jiménez‐Hernández, Mildred, Wang‐Zuniga, Carolina, Cartín‐Sánchez, Walter, Shieh, Joseph T., Badilla‐Porras, Ramses, Kahr, Walter H. A.
Published in Journal of thrombosis and haemostasis (01.07.2022)
Published in Journal of thrombosis and haemostasis (01.07.2022)
Get full text
Journal Article
Rubinstein–Taybi syndrome in diverse populations
Tekendo‐Ngongang, Cedrik, Owosela, Babajide, Fleischer, Nicole, Addissie, Yonit A., Malonga, Bryan, Badoe, Ebenezer, Gupta, Neerja, Moresco, Angélica, Huckstadt, Victoria, Ashaat, Engy A., Hussen, Dalia Farouk, Luk, Ho‐Ming, Lo, Ivan F. M., Hon‐Yin Chung, Brian, Fung, Jasmine L. F., Moretti‐Ferreira, Danilo, Batista, Letícia Cassimiro, Lotz‐Esquivel, Stephanie, Saborio‐Rocafort, Manuel, Badilla‐Porras, Ramses, Penon Portmann, Monica, Jones, Kelly L., Abdul‐Rahman, Omar A., Uwineza, Annette, Prijoles, Eloise J., Ifeorah, Ifeanyi Kanayo, Llamos Paneque, Arianne, Sirisena, Nirmala D., Dowsett, Leah, Lee, Sansan, Cappuccio, Gerarda, Kitchin, Carolyn Sian, Diaz‐Kuan, Alicia, Thong, Meow‐Keong, Obregon, María Gabriela, Mutesa, Leon, Dissanayake, Vajira H. W., El Ruby, Mona O., Brunetti‐Pierri, Nicola, Ekure, Ekanem Nsikak, Stevenson, Roger E., Muenke, Maximilian, Kruszka, Paul
Published in American journal of medical genetics. Part A (01.12.2020)
Published in American journal of medical genetics. Part A (01.12.2020)
Get full text
Journal Article
O-38 FULMINANT WILSON: A WELL-DEFINED ENTITY. HOW TO DIAGNOSE IT QUICKLY TO PREVENT MORTALITY
Hevia, Francisco, Penón, Mónica, Lotz, Stephanie, Mora, Alfredo, Jiménez, Gabriela, Badilla, Ramsés, Jiménez, Mildred, Saborío, Manuel, Hidalgo, Karina, González, Adrián, Vargas, Francisco, Ramirez, Wagner, Cob, Esteban, Carvajal, Aldo, Madrigal, Ana Lorena, Cortes, José Pablo, Vargas, Jorge, Alvarado, Danny
Published in Annals of hepatology (01.03.2023)
Published in Annals of hepatology (01.03.2023)
Get full text
Journal Article
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization
Penon‐Portmann, Monica, Lotz‐Esquivel, Stephanie, Chavez Carrera, Alejandra, Jiménez‐Hernández, Mildred, Alvarado‐Romero, Danny, Segura‐Cordero, Sharon, Rimolo‐Donadio, Fiorella, Hevia‐Urrutia, Francisco, Mora‐Guevara, Alfredo, Saborío‐Rocafort, Manuel, Jiménez‐Arguedas, Gabriela, Badilla‐Porras, Ramsés
Published in JIMD reports (01.03.2020)
Published in JIMD reports (01.03.2020)
Get full text
Journal Article
Perfil clínico de los pacientes con urticaria crónica en un hospital de tercer nivel de atención del sistema de seguridad social de Costa Rica
Sedó-Mejía, Giovanni, Lotz-Esquivel, Stephanie, Monge-Ortega, Olga Patricia, Pino-García, Caridad
Published in Revista alergia Mexico (Tecamachalco, Pueblo, Mexico : 1993) (01.12.2021)
Published in Revista alergia Mexico (Tecamachalco, Pueblo, Mexico : 1993) (01.12.2021)
Get full text
Journal Article
Williams–Beuren syndrome in diverse populations
Kruszka, Paul, Porras, Antonio R., de Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary T. K., Tekendo‐Ngongang, Cedrik, Fieggen, Karen, Prijoles, Eloise J., Tanpaiboon, Pranoot, Honey, Engela, Luk, Ho‐Ming, Lo, Ivan F. M., Thong, Meow‐Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., de Herreros, María Beatriz, Lee, Ni‐Chung, Jamuar, Saumya S., Lai, Angeline, Tan, Ee Shien, Ying Lim, Jiin, Wen‐Min, Cham Breana, Gupta, Neerja, Lotz‐Esquivel, Stephanie, Badilla‐Porras, Ramsés, Hussen, Dalia Farouk, El Ruby, Mona O., Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A. Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H. Y., Trubnykova, Milana, La Serna, Jorge, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Abarca Barriga, Hugo Hernán, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adeyemo, A. Adebowale, Morris, Colleen A., Moretti‐Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.05.2018)
Published in American journal of medical genetics. Part A (01.05.2018)
Get full text
Journal Article
Friches en montagne : problématiques, enjeux et opportunités
Ayari, Hamza, Bachimon, Philippe, Duvillard, Sylvie, Gauchon, Juliette, Jakob, Fabien, Lompech, Michel, Lotz-Coll, Stéphanie, Modica, Marcello, Mouret, Emma-Sophie, Oswald, Marc, Pedrazzini, Luisa, Ricard, Daniel, Torricelli, Gian Paolo, Vaillant, Michel, Stéphanie Lotz-Coll
Published in Revue de géographie alpine (06.04.2019)
Published in Revue de géographie alpine (06.04.2019)
Get full text
Journal Article