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Integrating production Science
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Integrating production Science
and technology of Central America
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Reis, André
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1
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
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2
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
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3
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
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4
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
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5
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
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6
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
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7
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
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8
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
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9
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
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