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A complex phenotype in a family with a pathogenic SOX3 missense variant

artículo científico publicado en 2017

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.

artículo científico publicado en 2018

Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

scientific article published on 12 June 2018

Attitudes towards abortion among trainees in obstetrics/gynecology and clinical genetics

artículo científico publicado en 2011

Chlamydia pneumoniae antibodies and endothelial function as assessed by flow-mediated dilation in patients with chest pain with and without ischemic heart disease

scientific article published on April 2003

Early diphtheria-tetanus-pertussis vaccination associated with higher female mortality and no difference in male mortality in a cohort of low birthweight children: an observational study within a randomised trial

artículo científico publicado en 2012

Effect of 50,000 IU vitamin A given with BCG vaccine on mortality in infants in Guinea-Bissau: randomised placebo controlled trial

artículo científico publicado en 2008

Effect of high-dose vitamin A supplementation on the immune response to Bacille Calmette-Guerin vaccine

artículo científico publicado en 2007

Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

artículo científico publicado en 2020

First reported adult patient with TARP syndrome: A case report

scientific article published on 21 November 2018

Interaction between neonatal vitamin A supplementation and timing of measles vaccination: a retrospective analysis of three randomized trials from Guinea-Bissau

artículo científico publicado en 2014

Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.

artículo científico publicado en 2014

Neonatal Vitamin A Supplementation: Sex‐Differential Effects on Mortality?

scientific article published in 2006

Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing

artículo científico publicado en 2012

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

artículo científico publicado en 2019

Pre-pregnancy transabdominal cerclage

artículo científico publicado en 2009

Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41

scientific article published on 11 October 2018

Randomized trial of BCG vaccination at birth to low-birth-weight children: beneficial nonspecific effects in the neonatal period?

artículo científico publicado en 2011

The Effect of 50 000 IU Vitamin A with BCG Vaccine at Birth on Growth in the First Year of Life

artículo científico publicado en 2011

The Effect of High‐Dose Vitamin A Supplementation Given with Bacille Calmette‐Guérin Vaccine at Birth on Infant Rotavirus Infection and Diarrhea: A Randomized Prospective Study from Guinea‐Bissau

article published in 2010

The effect of high-dose vitamin A supplementation at birth on measles incidence during the first 12 months of life in boys and girls: an unplanned study within a randomised trial

artículo científico publicado en 2011

The impact of different doses of vitamin A supplementation on male and female mortality. A randomised trial from Guinea-Bissau

artículo científico publicado en 2011

Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark

artículo científico publicado en 2017

Two different doses of supplemental vitamin A did not affect mortality of normal-birth-weight neonates in Guinea-Bissau in a randomized controlled trial

artículo científico publicado en 2014

Vitamin A supplementation and BCG vaccination at birth in low birthweight neonates: two by two factorial randomised controlled trial

artículo científico publicado en 2010

[High-dose vitamin A supplementation decreases childhood mortality rates in low-income countries--can the results be improved?]

artículo científico publicado en 2006

[Potential problems in obtaining insurance concern patients referred for genetic counseling]

artículo científico publicado en 2014

[Presymptomatic genetic testing in minors should only be performed when intervention is possible]

artículo científico publicado en 2014

[The genome and cardiology]

artículo científico publicado en 2014

[Thorough family history and a multidisciplinary approach are important in sudden cardiac deaths]

scientific article published on 01 February 2014