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Lista de obras de Ana Maria Fortuna

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone.

artículo científico publicado en 2016

A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.

artículo científico publicado en 2010

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population

scientific article published on 13 December 2010

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

artículo científico publicado en 2011

Galactosialidosis presenting as nonimmune fetal hydrops: a case report

artículo científico publicado en 2009

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

artículo científico publicado en 2009

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

artículo científico publicado en 2013

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

artículo científico publicado en 2015

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

artículo científico publicado en 2010

T Cell Numbers Relate to Bone Involvement in Gaucher Disease

artículo científico publicado en 1999

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

artículo científico publicado en 2015

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in <i>MYO7A</i> and <i>NEB</i>

artículo científico publicado en 2020

[Familial 18p syndrome -- a clinical case]

scientific article published on 17 November 2008

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