Detalhe da pesquisa
1.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37924258
2.
Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans.
Mol Psychiatry
; 2022 Nov 30.
Artigo
Inglês
| MEDLINE | ID: mdl-36450866
3.
Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia-target attainment requires further increase of intensity.
Pediatr Nephrol
; 33(7): 1199-1208, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29502162
4.
Final Validation of the Quality of Life after Brain Injury for Children and Adolescents (QOLIBRI-KID/ADO) Questionnaire.
Children (Basel)
; 11(4)2024 Apr 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38671655
5.
Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy.
Int J Environ Res Public Health
; 20(7)2023 03 31.
Artigo
Inglês
| MEDLINE | ID: mdl-37047974
6.
High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy.
Front Pediatr
; 11: 1259293, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38034835
7.
Mucha-Habermann disease: a pediatric case report and proposal of a risk score.
Int J Dermatol
; 61(4): 401-409, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-34287852
8.
Cardiovascular Outcome of Pediatric Patients With Bi-Allelic (Homozygous) Familial Hypercholesterolemia Before and After Initiation of Multimodal Lipid Lowering Therapy Including Lipoprotein Apheresis.
Am J Cardiol
; 136: 38-48, 2020 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32946862
9.
Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry.
Atherosclerosis
; 299: 24-31, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32199148
10.
Training-induced brain structure changes in the elderly.
J Neurosci
; 28(28): 7031-5, 2008 Jul 09.
Artigo
Inglês
| MEDLINE | ID: mdl-18614670
11.
Changes in gray matter induced by learning--revisited.
PLoS One
; 3(7): e2669, 2008 Jul 23.
Artigo
Inglês
| MEDLINE | ID: mdl-18648501