Detalhe da pesquisa
1.
Danish heritable retinoblastoma survivors' perspectives on reproductive choices: "It's important for me, not to pass on this condition".
J Genet Couns
; 32(1): 31-42, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876835
2.
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
PLoS Genet
; 16(12): e1009231, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33332384
3.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
4.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
5.
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Mov Disord
; 33(7): 1119-1129, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29603387
6.
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Hum Mutat
; 37(2): 148-54, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26507355
7.
Danish retinoblastoma patients 1943-2013 - genetic testing and clinical implications.
Acta Oncol
; 55(4): 412-7, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26494512
8.
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant.
Eur J Med Genet
; 67: 104894, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38070826
9.
Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome.
Eur J Med Genet
; 65(11): 104630, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36184070
10.
Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivity RB1 germline deletion.
Clin Case Rep
; 10(3): e05498, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35340648
11.
Genetic testing in adult survivors of retinoblastoma in Denmark: A study of the experience and impact of genetic testing many years after initial diagnosis.
Eur J Med Genet
; 65(9): 104569, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35843585
12.
B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.
Eur J Med Genet
; 64(12): 104342, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34537402
13.
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Eur J Med Genet
; 64(9): 104280, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34229113
14.
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.
Mol Genet Genomic Med
; 8(6): e1173, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32304187
15.
Incidence and Mortality of Second Primary Cancers in Danish Patients With Retinoblastoma, 1943-2013.
JAMA Netw Open
; 3(10): e2022126, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33090227
16.
Diagnostic and molecular genetic challenges in male incontinentia pigmenti: a case report.
Acta Derm Venereol
; 93(6): 741-2, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23572116
17.
Novel TRPV4 variant causes a severe form of metatropic dysplasia.
Clin Case Rep
; 6(9): 1774-1778, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30214761
18.
A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.
Eur J Med Genet
; 60(5): 275-278, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28315471
19.
Aortic events in a nationwide Marfan syndrome cohort.
Clin Res Cardiol
; 106(2): 105-112, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27550511
20.
The age-dependent decrease in the myogenic response of retinal arterioles as studied with the Retinal Vessel Analyzer.
Graefes Arch Clin Exp Ophthalmol
; 242(11): 914-9, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15258775