A Novel Pathogenic Variant in PRF1 Associated with Hemophagocytic Lymphohistiocytosis
Romero, Camilo Andrés Pérez, Sánchez, Isaura Pilar, Gutierrez-Hincapié, Sebastian, Álvarez-Álvarez, Jesús A., Pereañez, Jaime Andres, Ochoa, Rodrigo, Muskus-López, Carlos Enrique, Eraso, Ruth G., Echeverry, Carolina, Arango, Catalina, Restrepo, José Luis Franco, Trujillo-Vargas, Claudia Milena
Published in Journal of clinical immunology (01.07.2015)
Published in Journal of clinical immunology (01.07.2015)
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Frequency analysis of the g.7081T>G/A and g.10872T>G polymorphisms in the FCGR3A gene (CD16A) using nested PCR and their functional specific effects
Pérez-Romero, Camilo Andrés, Sánchez, Isaura Pilar, Naranjo-Piedrahita, Laura, Orrego-Arango, Julio Cesar, Muskus-López, Carlos Enrique, Rojas-Montoya, Winston, Franco Restrepo, Jose Luis, Trujillo-Vargas, Claudia Milena
Published in Genes and immunity (2019)
Published in Genes and immunity (2019)
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Descripción fenotípica de 26 pacientes con síndrome de Ritscher-Schinzel (displasia cráneo-cerebelo-cardíaca o síndrome 3C)
Pira Paredes, Sonia Mercedes, Montoya Villada, Jorge Hernán, Franco Restrepo, Jose Luis, Moncada Vélez, Marcela, Cornejo Ochoa, José William
Published in Revista de neurologiá (01.06.2017)
Published in Revista de neurologiá (01.06.2017)
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SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency
Chan, Yi-Hao, Lundberg, Vanja, Le Pen, Jérémie, Yuan, Jiayi, Lee, Danyel, Pinci, Francesca, Volpi, Stefano, Nakajima, Koji, Bondet, Vincent, Åkesson, Sanna, Khobrekar, Noopur V, Bodansky, Aaron, Du, Likun, Melander, Tina, Mariaggi, Alice-Andrée, Seeleuthner, Yoann, Saleh, Tariq Shikh, Chakravarty, Debanjana, Marits, Per, Dobbs, Kerry, Vonlanthen, Sofie, Hennings, Viktoria, Thörn, Karolina, Rinchai, Darawan, Bizien, Lucy, Chaldebas, Matthieu, Sobh, Ali, Özçelik, Tayfun, Keles, Sevgi, AlKhater, Suzan A, Prando, Carolina, Meyts, Isabelle, Wilson, Michael R, Rosain, Jérémie, Jouanguy, Emmanuelle, Aubart, Mélodie, Abel, Laurent, Mogensen, Trine H, Pan-Hammarström, Qiang, Gao, Daxing, Duffy, Darragh, Cobat, Aurélie, Berg, Stefan, Notarangelo, Luigi D, Harschnitz, Oliver, Rice, Charles M, Studer, Lorenz, Casanova, Jean-Laurent, Ekwall, Olov, Zhang, Shen-Ying
Published in The Journal of experimental medicine (02.09.2024)
Published in The Journal of experimental medicine (02.09.2024)
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Evaluación citogenética y de pérdida de la heterocigosidad de la región 22q11.2 en pacientes con el síndrome de DiGeorge
Gallego García, Germán Andreo, Trujillo Vargas, Claudia Milena, Garcés Samudio, Carlos Guillermo, Muñetón Peña, Carlos Mario, Orrego Arango, Julio César, Franco Restrepo, José Luis
Published in Iatreia (Medellín, Colombia) (01.09.2011)
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Published in Iatreia (Medellín, Colombia) (01.09.2011)
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Evaluación citogenética y de pérdida de la heterocigosidad de la región 22q11.2 en pacientes con el Síndrome de DiGeorge
Gallego García, Germán Andreo, Trujillo Vargas, Claudia Milena, Garcés Samudio, Carlos Guillermo, Muñeton Peña, Carlos Mario, Orrego Arango, Julio César, Franco Restrepo, José Luis
Published in Iatreia (Medellín, Colombia) (24.01.2012)
Published in Iatreia (Medellín, Colombia) (24.01.2012)
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Evaluación citogenética y de pérdida de la heterocigosidad de la región 22q11.2 en pacientes con el Síndrome de DiGeorge = Cytogenetic evaluation and loss of heterozigocity of chromosome 22q11.2 in patients with the DiGeorge syndrome
Gallego García, Germán Andreo, Trujillo Vargas, Claudia Milena, Garcés Samudio, Carlos Guillermo, Muñeton Peña, Carlos Mario, Orrego Arango, Julio César, Franco Restrepo, José Luis
Published in Iatreia (Medellín, Colombia) (01.09.2011)
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Published in Iatreia (Medellín, Colombia) (01.09.2011)
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