Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping
Harville, H M, Held, S, Diaz-Font, A, Davis, E E, Diplas, B H, Lewis, R A, Borochowitz, Z U, Zhou, W, Chaki, M, MacDonald, J, Kayserili, H, Beales, P L, Katsanis, N, Otto, E, Hildebrandt, F
Published in Journal of medical genetics (01.04.2010)
Published in Journal of medical genetics (01.04.2010)
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108 (PB-009) - The 2017 WCRF/AICR CUP Report on diet, nutrition, physical activity and breast cancer: Recent findings and future priorities
Diaz Font, A., Thompson, R., Wiseman, M., Mitrou, G., Brown, S., Allen, K.
Published in European journal of cancer (1990) (01.04.2018)
Published in European journal of cancer (1990) (01.04.2018)
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Bardet-Biedl syndrome proteins control cilia length through regulation of actin polymerisation
Hernandez, V, Pravincumar, P, Diaz-Font, A, May-Simera, H, Jenkins, D, Knight, M, Beales, PL
Published in Cilia (London) (16.11.2012)
Published in Cilia (London) (16.11.2012)
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Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic forms of the disease
Chabás, Amparo, Gort, Laura, Díaz-Font, Anna, Montfort, Magdalena, Santamaría, Raül, Cidrás, Manuel, Grinberg, Daniel, Vilageliu, Lluïsa
Published in Blood cells, molecules, & diseases (01.09.2005)
Published in Blood cells, molecules, & diseases (01.09.2005)
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New Insights into the Origin of the Gaucher Disease-Causing Mutation N370S: Extended Haplotype Analysis Using the 5GC3.2, 5470 G/A, and ITG6.2 Polymorphisms
Rodrı́guez-Marı́, Adriana, Dı́az-Font, Anna, Chabás, Amparo, Pastores, Gregory M., Grinberg, Daniel, Vilageliu, Lluı̈sa
Published in Blood cells, molecules, & diseases (01.09.2001)
Published in Blood cells, molecules, & diseases (01.09.2001)
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Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation
Díaz-Font, Anna, Santamaría, Raül, Cozar, Mònica, Blanco, Mariana, Chamoles, Néstor, Coll, Maria Josep, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel
Published in Molecular genetics and metabolism (01.09.2005)
Published in Molecular genetics and metabolism (01.09.2005)
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Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients
DIAZ-FONT, Anna, CORMAND, Bru, BLANCO, Mariana, CHAMOLES, Néstor, CHABAS, Amparo, GRINBERG, Daniel, VILAGELIU, Lluïsa
Published in Human genetics (01.04.2003)
Published in Human genetics (01.04.2003)
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