Miya F - Search Results

1

SALL4 deletion and kidney and cardiac defects associated with VACTERL association.

Watanabe D, Nakato D, Yamada M, Suzuki H, Takenouchi T, Miya F, Kosaki K. Watanabe D, et al. Among authors: miya f. Pediatr Nephrol. 2024 Feb 8. doi: 10.1007/s00467-024-06306-8. Online ahead of print. Pediatr Nephrol. 2024. PMID: 38329589

2

Café-au-lait Spots and Cleft Palate: Not a Chance Association.

Yamada M, Tanito K, Suzuki H, Nakato D, Miya F, Takenouchi T, Kosaki K. Yamada M, et al. Among authors: miya f. Cleft Palate Craniofac J. 2023 Jul 14:10556656231188205. doi: 10.1177/10556656231188205. Online ahead of print. Cleft Palate Craniofac J. 2023. PMID: 37448313

3

Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration.

Yamada M, Maeta K, Suzuki H, Kurosawa R, Takenouchi T, Awaya T, Ajiro M, Takeuchi A, Nishio H, Hagiwara M, Miya F, Matsuo M, Kosaki K. Yamada M, et al. Among authors: miya f. Sci Rep. 2024 Mar 18;14(1):6506. doi: 10.1038/s41598-024-56704-z. Sci Rep. 2024. PMID: 38499569 Free PMC article.

4

Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy.

Sano K, Miya F, Kato M, Omata T, Takanashi JI. Sano K, et al. Among authors: miya f. Brain Dev. 2023 Nov;45(10):583-587. doi: 10.1016/j.braindev.2023.07.003. Epub 2023 Aug 4. Brain Dev. 2023. PMID: 37543484

5

A case of infantile epileptic spasms syndrome and autism spectrum disorder with an RFX3 mutation.

Torio M, Maeda K, Akamine S, Kawakami S, Matsubara Y, Miya F, Kato M, Kira R. Torio M, et al. Among authors: miya f. Seizure. 2023 Nov;112:11-14. doi: 10.1016/j.seizure.2023.09.004. Epub 2023 Sep 7. Seizure. 2023. PMID: 37717291 Free article. No abstract available.

6

Simple and efficient differentiation of human iPSCs into contractible skeletal muscles for muscular disease modeling.

Rashid MI, Ito T, Miya F, Shimojo D, Arimoto K, Onodera K, Okada R, Nagashima T, Yamamoto K, Khatun Z, Shimul RI, Niwa JI, Katsuno M, Sobue G, Okano H, Sakurai H, Shimizu K, Doyu M, Okada Y. Rashid MI, et al. Among authors: miya f. Sci Rep. 2023 May 25;13(1):8146. doi: 10.1038/s41598-023-34445-9. Sci Rep. 2023. PMID: 37231024 Free PMC article.

7

Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.

Yamada M, Mizuno S, Inaba M, Uehara T, Inagaki H, Suzuki H, Miya F, Takenouchi T, Kurahashi H, Kosaki K. Yamada M, et al. Among authors: miya f. Am J Med Genet A. 2024 Apr 2:e63614. doi: 10.1002/ajmg.a.63614. Online ahead of print. Am J Med Genet A. 2024. PMID: 38562108

8

GATA2 deficiency of a novel missense variant with multiorgan inflammation.

Baba H, Kimura N, Kanegane H, Miya F, Kosaki K, Morio T, Koike R. Baba H, et al. Among authors: miya f. Rheumatology (Oxford). 2024 Jan 30:keae062. doi: 10.1093/rheumatology/keae062. Online ahead of print. Rheumatology (Oxford). 2024. PMID: 38290790 No abstract available.

9

Time-dependent cell-state selection identifies transiently expressed genes regulating ILC2 activation.

Tanaka Y, Yamagishi M, Motomura Y, Kamatani T, Oguchi Y, Suzuki N, Kiniwa T, Kabata H, Irie M, Tsunoda T, Miya F, Goda K, Ohara O, Funatsu T, Fukunaga K, Moro K, Uemura S, Shirasaki Y. Tanaka Y, et al. Among authors: miya f. Commun Biol. 2023 Sep 6;6(1):915. doi: 10.1038/s42003-023-05297-w. Commun Biol. 2023. PMID: 37673922 Free PMC article.

10

Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.

Yamada M, Nitta Y, Uehara T, Suzuki H, Miya F, Takenouchi T, Tamura M, Ayabe S, Yoshiki A, Maeno A, Saga Y, Furuse T, Yamada I, Okamoto N, Kosaki K, Sugie A. Yamada M, et al. Among authors: miya f. Eur J Med Genet. 2023 Aug;66(8):104804. doi: 10.1016/j.ejmg.2023.104804. Epub 2023 Jun 25. Eur J Med Genet. 2023. PMID: 37369308

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