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List of works by M Montfort

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

scientific article published on 10 March 2017

Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.

scientific article published on 2 December 2005

Exploiting single-molecule transcript sequencing for eukaryotic gene prediction

scientific article

Expression and functional characterization of human mutant sulfamidase in insect cells.

scientific article published on November 2004

Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred

scientific article published on 20 January 2009

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

scientific article published on June 2004

Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease

scientific article published on 01 July 1997

Genomic analysis of the blood attributed to Louis XVI (1754-1793), king of France

scientific article

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients ⬇️

scientific article published on January 1, 1998

On the age of the most prevalent Gaucher disease-causing mutation, N370S.

scientific article published in June 2000

Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.

scientific article published on September 1998

Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease

scientific article published on 01 March 1998

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