Author/Creator: Espinós, C - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Espinós, C

1. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. Issue 4 (1st April 2005)

Authors:: Claramunt, R; Pedrola, L; Sevilla, T; López de Munain, A; Berciano, J; Cuesta, A; Sánchez-Navarro, B; Millán, J M; Saifi, G M; Lupski, J R; Vílchez, J J; Espinós, C; Palau, F
Journal:: Journal of medical genetics
Issue:: Volume 42:Issue 4(2005)
Page Start:: 358
Record Type:: Journal Article
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2. Genetics of the Charcot‐Marie‐Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy‐Russe in depth. (10th October 2012)

Authors:: Sevilla, T; Martínez‐Rubio, D; Márquez, C; Paradas, C; Colomer, J; Jaijo, T; Millán, JM; Palau, F; Espinós, C
Journal:: Clinical genetics
Issue:: Volume 83:Number 6(2013:Jun.)
Page Start:: 565
Record Type:: Journal Article
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3. Linkage analysis in Usher syndrome type I (USH1) families from Spain. Issue 5 (May 1998)

Authors:: Espinós, C; Nájera, C; Millán, J M; Ayuso, C; Baiget, M; Pérez-Garrigues, H; Rodrigo, O; Vilela, C; Beneyto, M
Journal:: Journal of medical genetics
Issue:: Volume 35:Issue 5(1998)
Page Start:: 391
Record Type:: Journal Article
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4. Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. Issue 6 (19th March 2009)

Authors:: Espinós, C; Pineda, M; Martínez-Rubio, D; Lupo, V; Ormazabal, A; Vilaseca, M A; Spaapen, L J M; Palau, F; Artuch, R
Journal:: Journal of medical genetics
Issue:: Volume 46:Issue 6(2009)
Page Start:: 407
Record Type:: Journal Article
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5. Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation. Issue 11 (15th April 2016)

Authors:: Frasquet, M; Chumillas, M J; Vílchez, J J; Márquez-Infante, C; Palau, F; Vázquez-Costa, J F; Lupo, V; Espinós, C; Sevilla, T
Journal:: Journal of neurology, neurosurgery and psychiatry
Issue:: Volume 87:Issue 11(2016)
Page Start:: 1265
Record Type:: Journal Article
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