Search filters

List of works by 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.

scientific article

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

scientific article published in January 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

scientific article

Galactosialidosis presenting as nonimmune fetal hydrops: a case report

scientific article published on 01 September 2009

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

scientific article

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

scientific article published on 5 April 2013

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

scientific article published on 5 March 2015

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

scientific article published on 10 June 2010

T Cell Numbers Relate to Bone Involvement in Gaucher Disease

scientific article published on 01 April 1999

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

scientific article published on 26 August 2015

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

scientific article published on 30 July 2020

[Familial 18p syndrome -- a clinical case]

scientific article published on 17 November 2008

Paulina is supported by:

About Paulina

Help