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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2018 | 1 |
2019 | 6 |
2024 | 0 |
Search Results
7 results
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Page 1
Patients with SATB2-associated syndrome exhibiting multiple odontomas.
Am J Med Genet A. 2018 Dec;176(12):2614-2622. doi: 10.1002/ajmg.a.40670. Epub 2018 Dec 21.
Am J Med Genet A. 2018.
PMID: 30575289
CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features.
Uehara T, Tsuchihashi T, Yamada M, Suzuki H, Takenouchi T, Kosaki K.
Uehara T, et al.
Am J Med Genet A. 2019 Dec;179(12):2506-2509. doi: 10.1002/ajmg.a.61356. Epub 2019 Sep 11.
Am J Med Genet A. 2019.
PMID: 31512373
Review.
No abstract available.
Item in Clipboard
Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples.
Takenouchi T, Wei FY, Suzuki H, Uehara T, Takahashi T, Okazaki Y, Kosaki K, Tomizawa K.
Takenouchi T, et al.
Am J Med Genet A. 2019 Aug;179(8):1609-1614. doi: 10.1002/ajmg.a.61211. Epub 2019 May 29.
Am J Med Genet A. 2019.
PMID: 31140736
Review.
Item in Clipboard
CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome.
Uehara T, Takenouchi T, Yamaguchi Y, Daimon Y, Suzuki H, Sakaguchi Y, Kosaki K.
Uehara T, et al.
Am J Med Genet A. 2019 Apr;179(4):659-662. doi: 10.1002/ajmg.a.61068. Epub 2019 Feb 15.
Am J Med Genet A. 2019.
PMID: 30768759
Item in Clipboard
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
Okubo M, Doi H, Fukai R, Fujita A, Mitsuhashi S, Hashiguchi S, Kishida H, Ueda N, Morihara K, Ogasawara A, Kawamoto Y, Takahashi T, Takahashi K, Nakamura H, Kunii M, Tada M, Katsumoto A, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Suzuki J, Ito Y, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F.
Okubo M, et al.
Ann Neurol. 2019 Dec;86(6):962-968. doi: 10.1002/ana.25586. Epub 2019 Oct 22.
Ann Neurol. 2019.
PMID: 31433517
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De novo NSF mutations cause early infantile epileptic encephalopathy.
Suzuki H, Yoshida T, Morisada N, Uehara T, Kosaki K, Sato K, Matsubara K, Takano-Shimizu T, Takenouchi T.
Suzuki H, et al.
Ann Clin Transl Neurol. 2019 Nov;6(11):2334-2339. doi: 10.1002/acn3.50917. Epub 2019 Nov 1.
Ann Clin Transl Neurol. 2019.
PMID: 31675180
Free PMC article.
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Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers.
Suzuki H, Takenouchi T, Uehara T, Takasago S, Ihara S, Yoshihashi H, Kosaki K.
Suzuki H, et al.
Am J Med Genet A. 2019 Aug;179(8):1628-1630. doi: 10.1002/ajmg.a.61261. Epub 2019 Jun 7.
Am J Med Genet A. 2019.
PMID: 31173466
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