Detalhe da pesquisa
1.
Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation.
Hum Mutat
; 41(8): 1447-1460, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32485067
2.
A case report of mitochondrial respiratory chain disorder in the neonatal period for which home mechanical ventilation was introduced.
No To Hattatsu
; 49(1): 37-41, 2017 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-30011153
3.
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.
J Med Genet
; 52(10): 691-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26251176
4.
Nusinersen helps restore walking ability in childhood spinal muscular atrophy.
Pediatr Int
; 61(7): 728-729, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31290219
5.
Novel SLC30A2 mutations in the pathogenesis of transient neonatal zinc deficiency.
Pediatr Investig
; 7(1): 6-12, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36967740
6.
A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.
Eur J Med Genet
; 64(8): 104251, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34051360
7.
Cytokine profiles before and after exchange transfusion in a neonate with transient myeloproliferative disorder and hepatic fibrosis.
J Pediatr Hematol Oncol
; 32(4): e164-6, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20445414
8.
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.
Ann Clin Transl Neurol
; 5(3): 280-296, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29560374
9.
Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications.
Brain Dev
; 37(9): 874-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25843248
10.
Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia.
Brain Dev
; 34(3): 230-3, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21600715