Detalhe da pesquisa
1.
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
J Med Genet
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531627
2.
Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK.
Am J Med Genet A
; 194(3): e63458, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921548
3.
Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.
Clin Genet
; 102(3): 191-200, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35699227
4.
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families.
Clin Genet
; 100(2): 168-175, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33866545
5.
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Int J Mol Sci
; 22(13)2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281165
6.
Putative new childhood leukemia cancer predisposition syndrome caused by germline bi-allelic missense mutations in DDX41.
Genes Chromosomes Cancer
; 57(12): 670-674, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30144193
7.
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Hum Mutat
; 39(5): 621-634, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29392890
8.
First reported adult patient with TARP syndrome: A case report.
Am J Med Genet A
; 176(12): 2915-2918, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30462380
9.
Translation and Adaptation of the Genetic Counselling Outcome Scale (GCOS-24) for Use in Denmark.
J Genet Couns
; 26(5): 1080-1089, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28265802
10.
Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing.
Circulation
; 127(1): 48-54, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23197161
11.
Two different doses of supplemental vitamin A did not affect mortality of normal-birth-weight neonates in Guinea-Bissau in a randomized controlled trial.
J Nutr
; 144(9): 1474-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24991044
12.
Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.
Eur J Hum Genet
; 2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38740897
13.
National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.
Eur J Med Genet
; 66(12): 104872, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37967791
14.
Attitudes towards abortion among trainees in obstetrics/gynecology and clinical genetics.
Acta Obstet Gynecol Scand
; 91(2): 256-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22043977
15.
Randomized trial of BCG vaccination at birth to low-birth-weight children: beneficial nonspecific effects in the neonatal period?
J Infect Dis
; 204(2): 245-52, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21673035
16.
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth.
Eur J Med Genet
; 65(10): 104590, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35964931
17.
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.
Br J Nutr
; 105(12): 1819-22, 2011 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21294931
18.
The impact of different doses of vitamin A supplementation on male and female mortality. A randomised trial from Guinea-Bissau.
BMC Pediatr
; 11: 77, 2011 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21884606
19.
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.
J Infect Dis
; 202 Suppl: S243-51, 2010 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20684711
20.
[Genetic screening of adopted individuals].
Ugeskr Laeger
; 183(13)2021 03 29.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-33829992