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List of works by Javier García-Planells

A Multiomics Study To Unravel the Effects of Developmental Exposure to Endosulfan in Rats: Molecular Explanation for Sex-Dependent Effects

scientific article published on 10 September 2019

A novel SDHD mutation associated with neck paraganglioma.

scientific article published on 30 May 2011

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.

scientific article published in May 2005

Dnop56, a Drosophila gene homologous to the yeast nucleolar NOP56 gene

scientific article published in January 2000

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

scientific article published on 24 February 2010

Earlier relapse detection after allogeneic haematopoietic stem cell transplantation by chimerism assays: Digital PCR versus quantitative real-time PCR of insertion/deletion polymorphisms

scientific article published on 22 February 2019

Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia.

scientific article

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients

article

Molecular evolution of P transposable elements in the Genus drosophila. II. The obscura species group

scientific article published in September 1998

Novel human pathological mutations. Gene symbol: DMD. Disease: muscular dystrophy, Duchenne.

scientific article

The Reproductive Journey in the Genomic Era: From Preconception to Childhood

scientific article published on 19 December 2020

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

scientific article (publication date: 2002)

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