Detalhe da pesquisa
1.
Early disc degeneration in radiotherapy-treated childhood brain tumor survivors.
BMC Musculoskelet Disord
; 24(1): 441, 2023 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37259117
2.
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.
Prenat Diagn
; 42(12): 1525-1537, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35611473
3.
Profile of minor neurological findings after perinatal asphyxia.
Acta Paediatr
; 111(2): 291-299, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34599610
4.
Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.
J Clin Immunol
; 41(5): 1064-1071, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675005
5.
A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case.
Am J Med Genet A
; 185(8): 2477-2481, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988298
6.
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
J Clin Immunol
; 40(3): 503-514, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32072341
7.
Iron overload after allogeneic stem cell transplantation in children with acute lymphoblastic leukemia.
Pediatr Transplant
; 24(8): e13846, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111465
8.
Metronomic therapy can increase quality of life during paediatric palliative cancer care, but careful patient selection is essential.
Acta Paediatr
; 105(8): 946-51, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26801815
9.
Compromised peak bone mass in patients with inflammatory bowel disease--a prospective study.
J Pediatr
; 164(6): 1436-43.e1, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24650398
10.
Radiotherapy-induced vascular cognitive impairment 20 years after childhood brain tumor.
Neuro Oncol
; 26(2): 362-373, 2024 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37758202
11.
Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation.
J Pediatr
; 162(4): 844-9, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23140882
12.
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia.
J Allergy Clin Immunol
; 139(1): 375-378, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27568079
13.
The thoracic and lumbar spine in severe juvenile idiopathic arthritis: magnetic resonance imaging analysis in 50 children.
J Pediatr
; 160(1): 140-6, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21839466
14.
Impaired bone health in inflammatory bowel disease: a case-control study in 80 pediatric patients.
Calcif Tissue Int
; 91(2): 121-30, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22729560
15.
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
Am J Med Genet A
; 158A(12): 3119-25, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23165795
16.
A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.
Front Endocrinol (Lausanne)
; 13: 845889, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35311234
17.
Poor aEEG background recovery after perinatal hypoxic ischemic encephalopathy predicts postneonatal epilepsy by age 4 years.
Clin Neurophysiol
; 143: 116-123, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36183624
18.
Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype.
Am J Med Genet A
; 155A(6): 1322-8, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21523908
19.
Towards multimodal brain monitoring in asphyxiated newborns with amplitude-integrated EEG and simultaneous somatosensory evoked potentials.
Early Hum Dev
; 153: 105287, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33310460
20.
Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia.
Clin Endocrinol (Oxf)
; 72(4): 481-8, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19673927