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List of works by Birgitte Rode Diness

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

scientific article

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

scientific article published in February 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 ⬇️

scientific article published on December 20, 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

scientific article

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

scientific article published on 16 June 2008

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

scientific article published in October 2007

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

scientific article published on 13 May 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

scientific article

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

scientific article published on 13 April 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

scientific article published on 28 November 2012

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

scientific article published on 11 April 2019

Pre-pregnancy transabdominal cerclage

scientific article published on 01 January 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?

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 6 March 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

scientific article

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

scientific article

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

scientific article published on 01 June 2006

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

scientific article published on 01 March 2014

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

scientific article published on 01 December 2014

[The genome and cardiology] ⬇️

scientific article published on 01 November 2014

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

scientific article published on 01 February 2014

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