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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 5 |
2020 | 2 |
2024 | 0 |
Search Results
7 results
Results by year
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Page 1
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet. 2019 Dec;64(12):1173-1186. doi: 10.1038/s10038-019-0667-4. Epub 2019 Sep 17.
J Hum Genet. 2019.
PMID: 31530938
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
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A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, Schonstedt V, Stecher X, Okamoto N, Hamanaka K, Mizuguchi T, Mitsuhashi S, Miyake N, Matsumoto N.
Sakamoto M, et al.
J Hum Genet. 2020 Sep;65(9):751-757. doi: 10.1038/s10038-020-0765-3. Epub 2020 May 14.
J Hum Genet. 2020.
PMID: 32405030
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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
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De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.
Nakashima M, Kato M, Matsukura M, Kira R, Ngu LH, Lichtenbelt KD, van Gassen KLI, Mitsuhashi S, Saitsu H, Matsumoto N.
Nakashima M, et al.
J Hum Genet. 2020 Sep;65(9):727-734. doi: 10.1038/s10038-020-0758-2. Epub 2020 Apr 27.
J Hum Genet. 2020.
PMID: 32341456
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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
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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
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