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List of works by Ana Berta Sousa

A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update

scientific article

An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

scientific article

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

scientific article published on 22 January 2021

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

scientific article published on 29 June 2021

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population

scientific article published on 13 December 2010

Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.

scientific article

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.

scientific article published on 21 May 2015

Description of a child with a 6q14.1-q16.1 interstitial deletion: A very rare entity with airway manifestations

scientific article published on 10 March 2016

Macrodactyly in tuberous sclerosis complex: Case report and review of the literature.

scientific article published on 26 April 2016

Neonatal McCune-Albright syndrome with systemic involvement: a case report

scientific article

PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome

scientific article

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

article

Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus

scientific article published on 01 August 2017

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

scientific article published on 26 March 2014

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

scientific article published on 25 February 2015

VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease

scientific article published on 03 April 2020

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