Gösterilen 1 - 11 sonuçlar arası kayıtlar. 11 sonuç. Aranan kelime 'Reis, André' İçeriği atla
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  • Reis, André
Gösterilen 1 - 11 sonuçlar arası kayıtlar. 11 sonuç. Aranan kelime 'Reis, André', Sorgu süresi: 0.02s Sonuçları Daraltın
1
Kérwá
artículo original
Determinación indirecta, mediante marcadores de ADN, del estado de portadoras de distrofia muscular de Duchenne (DMD) en una familia costarricense
Yazar: Chavarría Soley, Gabriela, Reis, André, Azofeifa Navas, Jorge
Baskı/Yayın Bilgisi 2002
Kurum: Universidad de Costa Rica
Repositorio: Kérwá
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2
Kérwá
capítulo de libro
Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica
Yazar: Lobo Prada, Tanya, Sticht, Heinrich, Bogantes Ledezma, Sixto, Ekici, Arif, Uebe, Steffen, Reis, André, Leal Esquivel, Alejandro
Baskı/Yayın Bilgisi 2016
Kurum: Universidad de Costa Rica
Repositorio: Kérwá
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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...
Yazar: Chavarría Soley, Gabriela, Bosse, Kristin A., Azofeifa Navas, Jorge, Mardin, Christian Y., Reis, André, Michels Rautenstrauss, Karin G., Rautenstrauss, Bernd
Baskı/Yayın Bilgisi 2003
Kurum: Universidad de Costa Rica
Repositorio: Kérwá
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4
Kérwá
artículo original
Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3
Yazar: Berghoff, Corinna, Berghoff, Martin, Leal Esquivel, Alejandro, Morera Brenes, Bernal, Reis, André, Neundörfer, Bernhard, Bernd, Rautenstrauss, del Valle Carazo, Gerardo, Heuss, Dieter
Baskı/Yayın Bilgisi 2004
Kurum: Universidad de Costa Rica
Repositorio: Kérwá
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5
Repositorio UNA
artículo
The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25
Yazar: Leal, Alejandro, Bogantes-Ledezma, Sixto, Ekic, Arif B., Uebe, Steffen, Sticht, Heinrich, Berghoff, Martin, Berghoff, Corinna, Morera, Bernal, Meisterernst, Michael, Reis, André
Baskı/Yayın Bilgisi 2018
Kurum: Universidad Nacional de Costa Rica
Repositorio: Repositorio UNA
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6
Kérwá
artículo original
Profiling of WDR36 Missense Variants in German Patients with Glaucoma
Yazar: Passuto, Francesca, Mardin, Christian Y., Michels Rautenstrauss, Karin G., Weber, Bernhard H. F., Sticht, Heinrich, Chavarría Soley, Gabriela, Rautenstrauss, Bernd, Kruse, Friedrich, Reis, André
Baskı/Yayın Bilgisi 2008
Kurum: Universidad de Costa Rica
Repositorio: Kérwá
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7
Kérwá
artículo original
Heterozygous Loss-of-Function Variants in CYP1B1 Predispose to Primary Open-Angle Glaucoma
Yazar: 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
Baskı/Yayın Bilgisi 2010
Kurum: Universidad de Costa Rica
Repositorio: Kérwá
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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...
Yazar: 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
Baskı/Yayın Bilgisi 2003
Kurum: Universidad de Costa Rica
Repositorio: Kérwá
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9
Kérwá
artículo original
Novel Mutations in the MYOC/GLC1A Gene in a Large Group of Glaucoma Patients
Yazar: 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
Baskı/Yayın Bilgisi 2002
Kurum: Universidad de Costa Rica
Repositorio: Kérwá
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10
Kérwá
artículo original
A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3
Yazar: 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
Baskı/Yayın Bilgisi 2001
Kurum: Universidad de Costa Rica
Repositorio: Kérwá
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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...
Yazar: 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
Baskı/Yayın Bilgisi 2009
Kurum: Universidad Nacional de Costa Rica
Repositorio: Repositorio UNA
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