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

Author/Creator Palau, F

1. Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers. Issue 4 (April 1998)

Authors:: Martínez, F; Tomás, M; Millán, J M; Fernández, A; Palau, F; Prieto, F
Journal:: Journal of medical genetics
Issue:: Volume 35:Issue 4(1998)
Page Start:: 284
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

2. 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
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

3. 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
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

4. Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy. Issue 9 (September 1995)

Authors:: López de Munain, A; Cobo, A M; Poza, J J; Navarrete, D; Martorell, L; Palau, F; Emparanza, J I; Baiget, M
Journal:: Journal of medical genetics
Issue:: Volume 32:Issue 9(1995)
Page Start:: 689
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

5. 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
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

6. 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
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

7. The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease. Issue 3 (17th June 2014)

Authors:: Olivares, M; Neef, A; Castillejo, G; Palma, G De; Varea, V; Capilla, A; Palau, F; Nova, E; Marcos, A; Polanco, I; Ribes-Koninckx, C; Ortigosa, L; Izquierdo, L; Sanz, Y
Journal:: Gut
Issue:: Volume 64:Issue 3(2015)
Page Start:: 406
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗