Detalhe da pesquisa
1.
Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome.
Am J Med Genet A
; 191(7): 1984-1989, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37141439
2.
Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.
Am J Med Genet A
; 188(8): 2466-2471, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35703918
3.
HECW2-related disorder in four Japanese patients.
Am J Med Genet A
; 185(10): 2895-2902, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34047014
4.
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study.
J Hum Genet
; 65(3): 337-343, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31857675
5.
Corrigendum to "HECW2-related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363".
Am J Med Genet A
; 185(12): 3926-3927, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245093
6.
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.
Hum Genome Var
; 11(1): 2, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221519
7.
Characteristic craniofacial defects associated with a novel USP9X truncation mutation.
Hum Genome Var
; 11(1): 21, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38755172
8.
A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4.
Clin Pediatr Endocrinol
; 32(2): 105-109, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37020696
9.
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.
Hum Genome Var
; 10(1): 27, 2023 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37845262
10.
Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency.
Eur J Med Genet
; 66(12): 104870, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879495
11.
Human leukocyte antigen-DQ risk heterodimeric haplotypes of left ventricular dysfunction in cardiac sarcoidosis: an autoimmune view of its role.
Sci Rep
; 13(1): 19767, 2023 11 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37957180
12.
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.
Hum Genome Var
; 9(1): 43, 2022 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36470856
13.
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
Hum Genome Var
; 9(1): 26, 2022 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35879281
14.
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures.
Hum Genome Var
; 8(1): 43, 2021 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34845217
15.
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.
Hum Genome Var
; 8(1): 16, 2021 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958584
16.
[Inhibitory effects of hybrid liposomes on the growth of gastric tumor cells established from cotton rats].
Yakugaku Zasshi
; 128(10): 1485-92, 2008 Oct.
Artigo
em Japonês
| MEDLINE | ID: mdl-18827469
17.
The mutagenic mechanism of oxygenated alkylhydrazones occurs through alkyl radicals and alkyldiazonium ions.
Toxicol Res (Camb)
; 6(2): 173-178, 2017 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30090487