Verfasser Suchresultate

1

Kérwá

artículo original

Determinación indirecta, mediante marcadores de ADN, del estado de portadoras de distrofia muscular de Duchenne (DMD) en una familia costarricense

von Chavarría Soley, Gabriela, Reis, André, Azofeifa Navas, Jorge

Veröffentlicht 2002

Institution: Universidad de Costa Rica

Repositorio: Kérwá

2

Kérwá

capítulo de libro

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

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

Veröffentlicht 2016

Institution: Universidad de Costa Rica

Repositorio: Kérwá

3

Kérwá

artículo original

Primary Congenital Glaucoma: A Novel Single-Nucleotide Deletion and Varying Phenotypic Expression for the 1546-1555dup Mutation in the GLC3A (CYP1B1) Gene in 2 Families of Differen...

von Chavarría Soley, Gabriela, Bosse, Kristin A., Azofeifa Navas, Jorge, Mardin, Christian Y., Reis, André, Michels Rautenstrauss, Karin G., Rautenstrauss, Bernd

Veröffentlicht 2003

Institution: Universidad de Costa Rica

Repositorio: Kérwá

4

Kérwá

artículo original

Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

von Berghoff, Corinna, Berghoff, Martin, Leal Esquivel, Alejandro, Morera Brenes, Bernal, Reis, André, Neundörfer, Bernhard, Bernd, Rautenstrauss, del Valle Carazo, Gerardo, Heuss, Dieter

Veröffentlicht 2004

Institution: Universidad de Costa Rica

Repositorio: Kérwá

5

Repositorio UNA

artículo

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

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

Veröffentlicht 2018

Institution: Universidad Nacional de Costa Rica

Repositorio: Repositorio UNA

6

Kérwá

artículo original

Profiling of WDR36 Missense Variants in German Patients with Glaucoma

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

Veröffentlicht 2008

Institution: Universidad de Costa Rica

Repositorio: Kérwá

7

Kérwá

artículo original

Heterozygous Loss-of-Function Variants in CYP1B1 Predispose to Primary Open-Angle Glaucoma

von Passuto, Francesca, Chavarría Soley, Gabriela, Mardin, Christian Y., Michels Rautenstrauss, Karin G., Ingelman Sundberg, Magnus, Fernández Martínez, Lorena, Weber, Bernhard H. F., Rautenstrauss, Bernd, Reis, André

Veröffentlicht 2010

Institution: Universidad de Costa Rica

Repositorio: Kérwá

8

Kérwá

artículo original

Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one fam...

von Leal Esquivel, Alejandro, Berghoff, Corinna, Berghoff, Martin, del Valle Carazo, Gerardo, Contreras, Carlos, Montoya, Olga, Hernández, Erick, Barrantes Mesén, Ramiro, Schlötzer Schrehardt, Ursula, Neundörfer, Bernhard, Reis, André, Rautenstrauss, Bernd, Heuss, Dieter

Veröffentlicht 2003

Institution: Universidad de Costa Rica

Repositorio: Kérwá

9

Kérwá

artículo original

Novel Mutations in the MYOC/GLC1A Gene in a Large Group of Glaucoma Patients

von Michels Rautenstrauss, Karin G., Mardin, Christian Y., Nina, Wakili, Jünemann, Anselm M., Villalobos, Luis, Mejía, Carlos Amando, Chavarría Soley, Gabriela, Azofeifa Navas, Jorge, Özbey, Sevinc, OH Naumann, Gottfried, Reis, André, Rautenstrauss, Bernd

Veröffentlicht 2002

Institution: Universidad de Costa Rica

Repositorio: Kérwá

10

Kérwá

artículo original

A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3

von Leal Esquivel, Alejandro, Morera Brenes, Bernal, del Valle Carazo, Gerardo, Heuss, Dieter, Kayser, Corinna, Berghoff, Martin, Villegas Palma, Ramón, Hernández, Erick, Méndez, María, Hennies, Hans Christian, Bernhard, Neundörfer, Barrantes Mesén, Ramiro, Reis, André, Rautenstrauss, Bernd

Veröffentlicht 2001

Institution: Universidad de Costa Rica

Repositorio: Kérwá

11

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...

von 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

Veröffentlicht 2009

Institution: Universidad Nacional de Costa Rica

Repositorio: Repositorio UNA