Canlyniadau Chwilio am Awdur

1

Kérwá

capítulo de libro

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

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

Cyhoeddwyd 2016

Sefydliad: 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

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

Cyhoeddwyd 2018

Sefydliad: Universidad Nacional de Costa Rica

Repositorio: Repositorio UNA

3

Kérwá

artículo original

Profiling of WDR36 Missense Variants in German Patients with Glaucoma

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

Cyhoeddwyd 2008

Sefydliad: 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...

gan 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

Cyhoeddwyd 2009

Sefydliad: Universidad Nacional de Costa Rica

Repositorio: Repositorio UNA