Detalhe da pesquisa
1.
Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing.
J Hum Genet
; 68(6): 431-435, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36765129
2.
Online questionnaire on genetic testing for intractable diseases in Japan: response to and issues associated with the revised medical care act.
J Hum Genet
; 66(11): 1043-1051, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059779
3.
Pseudomonas aeruginosa Clinical Isolates in Nepal Coproducing Metallo-ß-Lactamases and 16S rRNA Methyltransferases.
Antimicrob Agents Chemother
; 61(9)2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28696242
4.
Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype.
Front Genet
; 15: 1383176, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38601074
5.
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
Hum Genome Var
; 9(1): 9, 2022 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361766
6.
Helicobacter pylori genomes reveal Paleolithic human migration to the east end of Asia.
iScience
; 25(7): 104477, 2022 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35720267
7.
Complete Genome Sequence of Lactococcus cremoris Strain 7-1, a Lactic Acid Bacterium Isolated from a Traditional Mongolian Milk Product Possessing Mucin-Adhesive Ability.
Microbiol Resour Announc
; 11(4): e0014322, 2022 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35377186
8.
A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder.
Brain Dev
; 43(2): 303-307, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33097317
9.
Essential roles of plexin-B3+ oligodendrocyte precursor cells in the pathogenesis of Alzheimer's disease.
Commun Biol
; 4(1): 870, 2021 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34267322
10.
A severe case of status dystonicus caused by a de novo KMT2B missense mutation.
Eur J Med Genet
; 63(11): 104057, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32877735
11.
Complete genome sequence of a methicillin-resistant Staphylococcus lugdunensis strain and characteristics of its staphylococcal cassette chromosome mec.
Sci Rep
; 10(1): 8682, 2020 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32457307
12.
Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome.
Clin Epigenetics
; 12(1): 159, 2020 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33092629
13.
Same Locus for Non-shattering Seed Pod in Two Independently Domesticated Legumes, Vigna angularis and Vigna unguiculata.
Front Genet
; 11: 748, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32793284
14.
The CFTR gene variants in Japanese children with idiopathic pancreatitis.
Hum Genome Var
; 6: 17, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30992994
15.
Genome-wide mutation analysis of Helicobacter pylori after inoculation to Mongolian gerbils.
Gut Pathog
; 11: 45, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31558915
16.
A novel CUL4B splice site variant in a young male exhibiting less pronounced features.
Hum Genome Var
; 6: 43, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31645981
17.
Emergence of IncX4 plasmids encoding mcr-1 in a clinical isolate of Klebsiella pneumoniae in Japan.
Int J Infect Dis
; 75: 98-100, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30149089
18.
Complete Genome Sequence of Petrimonas sp. Strain IBARAKI, Assembled from the Metagenome Data of a Culture Containing Dehalococcoides spp.
Genome Announc
; 6(18)2018 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29724849
19.
Complete Genome Sequence of Carotenoid-Producing Enterococcus gilvus CR1, Isolated from Raw Cow's Milk.
Microbiol Resour Announc
; 7(10)2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30533613
20.
Complete Genome Sequence of Lactobacillus paracasei EG9, a Strain Accelerating Free Amino Acid Production during Cheese Ripening.
Genome Announc
; 6(27)2018 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29976610