Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization

по 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
Опубликовано в: JIMD Rep (2020)

Williams-Beuren Syndrome in Diverse Populations

по 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 TK, Tekendo-Ngongang, Cedrik, Fieggen, Karen, Prijoles, E.J., Tanpaiboon, Pranoot, Honey, Engela, Ho-Ming, Luk, Lo, Ivan FM, Thong, Meow-Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, Bouchikhi, Ihssane El, 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, Shien, Tan Ee, Lim, Jiin Ying, 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, Jugo, Bertha Elena Gallardo, Pastor, Miguel Chávez, Barriga, Hugo Hernán Abarca, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adebowale, Adeyemo A., Morris, Colleen A., Moretti-Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian
Опубликовано в: Am J Med Genet A (2018)