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Journal of Medical Genetics|September 1, 1996
Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated casesL Martorell, I Illa, J Rosell, et al.
Neurology|February 15, 2001
Frequency and stability of the myotonic dystrophy type 1 premutationL Martorell, D G Monckton, A Sanchez, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|February 6, 2015
Molecular characterization of ten F8 splicing mutations in RNA isolated from patient's leucocytes: assessment of in silico prediction tools accuracyL Martorell, I Corrales, L Ramirez, et al.
Prenatal Diagnosis|March 4, 2000
Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophyC Zühlke, J Atici, L Martorell, et al.
HIV Medicine|August 15, 2006
Influence of a monocyte chemoattractant protein 1 mutated allele on the response to protease inhibitor-based antiretroviral therapyB Coll, C Alonso-Villaverde, S Parra, et al.
Human Genetics|June 1, 1997
Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patientsM A Pujana, L Martorell, V Volpini, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|February 17, 2009
[Griscelli-Prunieras syndrome: report of two cases]P González Carretero, A Noguera Julian, S Ricart Campos, et al.
Human Mutation|January 1, 1997
The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: usefulness and limitationsL Martorell, M A Pujana, V Volpini, et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico|February 7, 2018
Germline promoter hypermethylation in BRCA1 and BRCA2 genes is not present in hereditary breast cancer patientsM Rodríguez-Balada, B Roig, M Melé, et al.
Schizophrenia Research|May 10, 2001
Association study of schizophrenia with polymorphisms at six candidate genesC Virgos, L Martorell, J Valero, et al.
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