Detalhe da pesquisa
1.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
2.
Cerebral palsy and bisphosphonates - and what can be learned from other types of secondary osteoporosis in children: A scoping review.
Acta Paediatr
; 112(4): 617-629, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36644940
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.
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
5.
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
6.
A descriptive study of colorectal function in adults with Prader-Willi Syndrome: high prevalence of constipation.
BMC Gastroenterol
; 14: 63, 2014 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24708524
7.
Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study.
Oncol Ther
; 11(1): 97-110, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454436
8.
Zoledronate Increases Bone Mineral Density in Nonambulant Children With Cerebral Palsy: A Randomized Controlled Trial.
J Clin Endocrinol Metab
; 108(11): 2840-2851, 2023 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37235798
9.
Fracture Rates in Children with Cerebral Palsy: A Danish, Nationwide Register-Based Study.
Clin Epidemiol
; 14: 1405-1414, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36444291
10.
[Beckwith-Wiedemann over-growth syndrom].
Ugeskr Laeger
; 183(24)2021 06 14.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-34120690
11.
Effects of Growth Hormone Treatment on Sleep-Related Parameters in Adults With Prader-Willi Syndrome.
J Clin Endocrinol Metab
; 106(9): e3634-e3643, 2021 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33950234
12.
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency.
Eur J Med Genet
; 64(10): 104306, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400372
13.
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
14.
Assessment of physical function in adults with Prader-Willi syndrome.
Disabil Rehabil
; 31(21): 1780-4, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19479512
15.
Management of a DAVF in a Patient with Loeys-Dietz Syndrome Type II : Case Report and Overview of the Literature.
Clin Neuroradiol
; 31(3): 871-874, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33978775
16.
[Ehlers-Danlos syndrome].
Ugeskr Laeger
; 178(17)2016 Apr 25.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-27136954
17.
Glucose homeostasis in adults with Prader-Willi syndrome during treatment with growth hormone: results from a 12-month prospective study.
Growth Horm IGF Res
; 24(1): 16-21, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360789
18.
Growth hormone treatment in adults with Prader-Willi syndrome: the Scandinavian study.
Endocrine
; 41(2): 191-9, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22081257
19.
Normal cortisol response to high-dose synacthen and insulin tolerance test in children and adults with Prader-Willi syndrome.
J Clin Endocrinol Metab
; 96(1): E173-80, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20980432
20.
Growth hormone treatment for two years is safe and effective in adults with Prader-Willi syndrome.
Growth Horm IGF Res
; 21(4): 185-90, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21664161