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

by Chavarría Soley, Gabriela, Reis, André, Azofeifa Navas, Jorge
Published 2015

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...

by Chavarría Soley, Gabriela, Bosse, Kristin A., Azofeifa Navas, Jorge, Mardin, Christian Y., Reis, André, Michels Rautenstrauss, Karin G., Rautenstrauss, Bernd
Published 2015

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 2020

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 2019

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

by 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
Published 2019

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

by Berghoff, Corinna, Berghoff, Martin, Leal Esquivel, Alejandro, Reis, André, Neundörfer, Bernhard, Bernd, Rautenstrauss, del Valle Carazo, Gerardo, Heuss, Dieter, Morera Brenes, Bernal
Published 2015

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

by Leal Esquivel, Alejandro, 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, Morera Brenes, Bernal
Published 2015

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

by 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
Published 2015

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...

by 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
Published 2015