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List of works by Oscar Ortega-Recalde

A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis

scientific article published on 9 March 2015

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

scientific article published on 4 April 2013

BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure.

scientific article published on 12 August 2014

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.

scientific article

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis

scientific article

Natural sex change in fish

scientific article published on 30 January 2019

Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations.

scientific article published on 16 May 2015

Stress, novel sex genes and epigenetic reprogramming orchestrate socially-controlled sex change

article

Stress, novel sex genes, and epigenetic reprogramming orchestrate socially controlled sex change

scientific article published on 10 July 2019

The Genetics and Epigenetics of Sex Change in Fish

scientific article published on 16 September 2019

The elephant shark methylome reveals conservation of epigenetic regulation across jawed vertebrates.

scientific article

Transcriptomic analysis of skin in a case of ichthyosis Curth-Macklin caused by a KRT1 mutation.

scientific article published on 12 August 2016

Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology

scientific article

Zebrafish preserve global germline DNA methylation while sex-linked rDNA is amplified and demethylated during feminisation

scientific article published on 16 July 2019

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