Author Search Results

1

Kérwá

capítulo de libro

Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica

by Lobo Prada, Tanya, Sticht, Heinrich, Bogantes Ledezma, Sixto, Ekici, Arif, Uebe, Steffen, Reis, André, Leal Esquivel, Alejandro

Published 2016

Institution: Universidad de Costa Rica

Repositorio: Kérwá

2

Repositorio UNA

artículo

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

by Leal, Alejandro, Bogantes-Ledezma, Sixto, Ekic, Arif B., Uebe, Steffen, Sticht, Heinrich, Berghoff, Martin, Berghoff, Corinna, Morera, Bernal, Meisterernst, Michael, Reis, André

Published 2018

Institution: Universidad Nacional de Costa Rica

Repositorio: Repositorio UNA

3

Kérwá

artículo original

Profiling of WDR36 Missense Variants in German Patients with Glaucoma

by Passuto, Francesca, Mardin, Christian Y., Michels Rautenstrauss, Karin G., Weber, Bernhard H. F., Sticht, Heinrich, Chavarría Soley, Gabriela, Rautenstrauss, Bernd, Kruse, Friedrich, Reis, André

Published 2008

Institution: Universidad de Costa Rica

Repositorio: Kérwá

4

Repositorio UNA

artículo

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25...

by Leal, Alejandro, Huehne, Kathrin, Bauer, Finn, Sticht, Heinrich, Berger, Philipp, Suter, Ueli, Morera, Bernal, Del Valle, Gerardo, Lupski, James R., Ekici, Arif, Pasutto, Francesca, Endele, Sabine, Barrantes, Ramiro, Berghoff, Corinna, Berghoff, Martin, Neundörfer, Bernhard, Heuss, Dieter, Dorn, Thomas, Young, Peter, Santolin, Lisa, Uhlmann, Thomas, Meisterernst, Michael, Sereda, Michael, Meyer zu Horste, Gerd, Nave, Klaus-Armin, Reis, André, Rautenstrauss, Bernd

Published 2009

Institution: Universidad Nacional de Costa Rica

Repositorio: Repositorio UNA