publicaciones seleccionadas
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artículo académico
- Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations 2015-7-1
- A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis 2015-10-1
- Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability 2015-10-1
- BMP15 c.-9Candgt;G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure 2014-1-1
- Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology 2013-6-3
- A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations 2013-11-1
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carta