Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 6 |
2023 | 1 |
2024 | 0 |
Search Results
7 results
Results by year
Filters applied: . Clear all
Page 1
Design and implementation of a hybrid cloud system for large-scale human genomic research.
Hum Genome Var. 2023 Feb 8;10(1):6. doi: 10.1038/s41439-023-00231-2.
Hum Genome Var. 2023.
PMID: 36755016
Free PMC article.
Comparison of mitochondrial DNA variants detection using short- and long-read sequencing.
Alkanaq AN, Hamanaka K, Sekiguchi F, Taguri M, Takata A, Miyake N, Miyatake S, Mizuguchi T, Matsumoto N.
Alkanaq AN, et al.
J Hum Genet. 2019 Nov;64(11):1107-1116. doi: 10.1038/s10038-019-0654-9. Epub 2019 Aug 13.
J Hum Genet. 2019.
PMID: 31409854
Item in Clipboard
A novel de novo frameshift variant in SETD1B causes epilepsy.
Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N.
Den K, et al.
J Hum Genet. 2019 Aug;64(8):821-827. doi: 10.1038/s10038-019-0617-1. Epub 2019 May 20.
J Hum Genet. 2019.
PMID: 31110234
Review.
Item in Clipboard
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.
Oda Y, Uchiyama Y, Motomura A, Fujita A, Azuma Y, Harita Y, Mizuguchi T, Yanagi K, Ogata H, Hata K, Kaname T, Matsubara Y, Wakui K, Matsumoto N.
Oda Y, et al.
J Hum Genet. 2019 Oct;64(10):1005-1014. doi: 10.1038/s10038-019-0641-1. Epub 2019 Jul 16.
J Hum Genet. 2019.
PMID: 31311986
Item in Clipboard
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.
Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T, Miyatake S, Miyake N, Matsumoto N.
Saida K, et al.
J Hum Genet. 2019 Sep;64(9):885-890. doi: 10.1038/s10038-019-0626-0. Epub 2019 Jul 4.
J Hum Genet. 2019.
PMID: 31270375
Item in Clipboard
Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.
Uchiyama Y, Kim CA, Pastorino AC, Ceroni J, Lima PP, de Barros Dorna M, Honjo RS, Bertola D, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Mizuguchi T, Matsumoto N.
Uchiyama Y, et al.
J Hum Genet. 2019 Sep;64(9):955-960. doi: 10.1038/s10038-019-0631-3. Epub 2019 Jun 18.
J Hum Genet. 2019.
PMID: 31213653
Item in Clipboard
Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome.
Lei M, Mitsuhashi S, Miyake N, Ohta T, Liang D, Wu L, Matsumoto N.
Lei M, et al.
J Hum Genet. 2019 Jul;64(7):647-652. doi: 10.1038/s10038-019-0596-2. Epub 2019 Apr 15.
J Hum Genet. 2019.
PMID: 30988409
Item in Clipboard
Cite
Cite