Detalhe da pesquisa
1.
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
Am J Hum Genet
; 110(7): 1068-1085, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352860
2.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
; 46(3): 482-519, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221165
3.
Childhood primary large vessel CNS vasculitis: single-centre experience and review of the literature.
Clin Exp Rheumatol
; 35 Suppl 103(1): 213-220, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28375836
4.
Interferon signature guiding therapeutic decision making: ruxolitinib as first-line therapy for severe juvenile dermatomyositis?
Rheumatology (Oxford)
; 60(4): e136-e138, 2021 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200187
5.
Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.
Neuropediatrics
; 47(3): 182-6, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26951492
6.
Safety of gadobutrol in more than 1,000 pediatric patients: subanalysis of the GARDIAN study, a global multicenter prospective non-interventional study.
Pediatr Radiol
; 46(9): 1317-23, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27041276
7.
A five year-old child with clear cell petro-clival meningioma: case report with clinical and histopathological long-term follow-up.
Childs Nerv Syst
; 31(11): 2193-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077595
8.
Safety of gadobutrol: results of a non-interventional study of 3710 patients, including 404 children.
Acta Radiol
; 60(7): 873-879, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30253660
9.
[Congenital brain malformations]. / Angeborene Hirnfehlbildungen.
Radiologie (Heidelb)
; 64(5): 410-419, 2024 May.
Artigo
em Alemão
| MEDLINE | ID: mdl-38639917
10.
Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus (jSLE).
Mol Cell Pediatr
; 10(1): 5, 2023 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37556020
11.
Rapid and sustained response to JAK inhibition in a child with severe MDA5 + juvenile dermatomyositis.
Pediatr Rheumatol Online J
; 21(1): 104, 2023 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37726751
12.
Acute Cerebral Symptoms in a Child with Down Syndrome and Acute Leukemia - What has to be Considered?
Klin Padiatr
; 229(3): 177-179, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28376541
13.
Anthropometric Landmarking for Diagnosis of Cranial Deformities: Validation of an Automatic Approach and Comparison with Intra- and Interobserver Variability.
Ann Biomed Eng
; 50(9): 1022-1037, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35622207
14.
Cytopathic effects of the cytomegalovirus-encoded apoptosis inhibitory protein vMIA.
J Cell Biol
; 174(7): 985-96, 2006 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-16982800
15.
Chronic nonbacterial osteomyelitis (CNO) and chronic recurrent multifocal osteomyelitis (CRMO).
J Transl Autoimmun
; 4: 100095, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33870159
16.
Diagnosis and Treatment of Small Vessel Childhood Primary Angiitis of the Central Nervous System (sv-cPACNS): An International Survey.
Front Pediatr
; 9: 756612, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34712632
17.
Diagnosis and Treatment of Angiography Positive Medium to Large Vessel Childhood Primary Angiitis of Central Nervous System (p-cPACNS): An International Survey.
Front Pediatr
; 9: 654537, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33842414
18.
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines.
Children (Basel)
; 8(8)2021 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34438578
19.
Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis.
J Bone Miner Res
; 36(8): 1621-1635, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33905594
20.
Importance of covalent and noncovalent SUMO interactions with the major human cytomegalovirus transactivator IE2p86 for viral infection.
J Virol
; 83(24): 12881-94, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19812159