Detalhe da pesquisa
1.
Natural history of adults with KBG syndrome: a physician-reported experience.
Genet Med
; : 101170, 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38818797
2.
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
3.
Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex.
Mol Genet Metab
; 120(4): 384-391, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28336152
4.
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.
Am J Med Genet A
; 173(4): 1102-1108, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328135
5.
Congenital Tooth Agenesis and Risk of Early-Onset Cancer.
JAMA Netw Open
; 7(3): e240365, 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488796
6.
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Eur J Med Genet
; 69: 104937, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38574886
7.
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2.
Eur J Med Genet
; 66(2): 104695, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36608738
8.
Real-world evidence in achondroplasia: considerations for a standardized data set.
Orphanet J Rare Dis
; 18(1): 166, 2023 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365619
9.
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.
Orphanet J Rare Dis
; 18(1): 56, 2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36922864
10.
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
11.
Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant.
Eur J Med Genet
; 65(3): 104444, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35093606
12.
[Beckwith-Wiedemann over-growth syndrom].
Ugeskr Laeger
; 183(24)2021 06 14.
Artigo
em Da
| MEDLINE | ID: mdl-34120690
13.
Living with heritable retinoblastoma and the perceived role of regular follow-up at a retinoblastoma survivorship clinic: 'That is exactly what I have been missing'.
BMJ Open Ophthalmol
; 6(1): e000760, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34568581
14.
Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations.
Eur J Med Genet
; 63(2): 103650, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30980954
15.
Pycnodysostosis in children and adults.
Bone
; 169: 116674, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36646263
16.
Elastosis Perforans Serpiginosa in a patient with Down syndrome treated with imiquimod 5% cream.
Dermatol Reports
; 2(2): 15, 2010 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25386246