Gösterilen 1 - 6 sonuçlar arası kayıtlar. 6 sonuç. Aranan kelime 'Berghoff, Martin' İçeriği atla
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  • Berghoff, Martin
Gösterilen 1 - 6 sonuçlar arası kayıtlar. 6 sonuç. Aranan kelime 'Berghoff, Martin', Sorgu süresi: 0.02s Sonuçları Daraltın
1
Repositorio UNA
artículo
Late onset autosomal dominant Charcot– Marie–Tooth 2 neuropathy in a Costa Rican family
Yazar: Berghoff, Corinna, Berghoff, Martin, Leal, Alejandro, Morera, Bernal, Contreras, Carlos, Barrantes, Ramiro, Rautenstrauss, Bernd, Del Valle, Gerardo, Heuss, Dieter
Baskı/Yayın Bilgisi 2009
Kurum: Universidad Nacional de Costa Rica
Repositorio: Repositorio UNA
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2
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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3
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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4
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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5
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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6
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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