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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

artículo científico publicado en 2020

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.

artículo científico publicado en 2018

Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth

artículo científico publicado en 2020

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype

artículo científico publicado en 2019

Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body

artículo científico publicado en 2018

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2

scientific article published on 11 August 2020

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

scientific article published on 21 December 2018

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

artículo científico publicado en 2019

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

artículo científico publicado en 2017

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