Detalhe da pesquisa
1.
Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.
J Pediatr
; 244: 38-48.e1, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35131284
2.
Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
Curr Issues Mol Biol
; 43(1): 389-404, 2021 Jun 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34205365
3.
Autophagy in the Central Nervous System and Effects of Chloroquine in Mucopolysaccharidosis Type II Mice.
Int J Mol Sci
; 20(23)2019 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31757021
4.
Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.
Biol Blood Marrow Transplant
; 23(10): 1795-1803, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28673849
5.
Relationship between Severity of Aseptic Meningitis and Cerebrospinal Fluid Cytokine Levels.
Osaka City Med J
; 61(2): 63-71, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26995850
6.
Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant Syndromic Hearing Loss With Keratoderma.
Cureus
; 16(2): e54992, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38550477
7.
Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report.
Case Rep Nephrol Dial
; 14(1): 1-9, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38179179
8.
Oculofaciocardiodental syndrome caused by a novel BCOR variant.
Hum Genome Var
; 10(1): 18, 2023 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308473
9.
Possible critical region associated with late-onset spasms in 17p13.1-p13.2 microdeletion syndrome: a report of two new cases and review of the literature.
Epileptic Disord
; 24(3): 567-571, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35653098
10.
Disconnection surgery to cure or palliate medically intractable epileptic spasms: a retrospective study.
J Neurosurg Pediatr
; 29(6): 693-699, 2022 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37522649
11.
Effect of Donor NKG2D Polymorphism on Relapse after Haploidentical Transplantation with Post-Transplantation Cyclophosphamide.
Transplant Cell Ther
; 28(1): 20.e1-20.e10, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34607074
12.
Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study.
Mol Genet Metab Rep
; 29: 100816, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34745890
13.
Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report.
JIMD Rep
; 62(1): 9-14, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34765392
14.
Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion.
Hum Genome Var
; 6: 47, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31645985
15.
Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.
Brain Dev
; 41(9): 776-782, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31171384
16.
Effect of the alterations in the fusion protein of measles virus isolated from brains of patients with subacute sclerosing panencephalitis on syncytium formation.
Virus Res
; 130(1-2): 260-8, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17825451
17.
A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities.
Hum Genome Var
; 4: 17007, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28326186
18.
Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.
J Pediatr Genet
; 6(4): 234-237, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29142766
19.
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.
Intractable Rare Dis Res
; 6(3): 177-182, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28944139
20.
Psychogenic nonepileptic seizures as a manifestation of psychological distress associated with undiagnosed autism spectrum disorder.
Neuropsychiatr Dis Treat
; 12: 185-9, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26848267