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1 . Academic Journal
Magnéli phase vanadium oxide thin films produced by stepwise oxidation of vanadium metal foil
저자
by
Nagata, Miho
;
Matsuda, Mitsuhiro
;
Himeno, Yuta
;
Shida, Kenji
;
Matsuda, Motohide
.
소스
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Scripta Materialia
October 2022 219
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7 . Academic Journal
Characteristic craniofacial defects associated with a novel USP9X truncation mutation.
저자
by
Nagata, Namiki
;
Kurosaka, Hiroshi
;
Higashi, Kotaro
;
Yamaguchi, Masaya
;
Yamamoto, Sayuri
, et al.
소스
Human Genome Variation; 5/16/2024, Vol. 11 Issue 1, p1-4, 4p
Scopus
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7 . Academic Journal
Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.
저자
by
Shimomura, Rina
;
Yanagishita, Tomoe
;
Ishiguro, Kumiko
;
Shichiji, Minobu
;
Sato, Takatoshi
, et al.
소스
Human Genome Variation; 1/15/2024, Vol. 11 Issue 1, p1-4, 4p
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7 . Academic Journal
MYH9-related disorder with sole presentation of end-stage kidney disease and long-term, recurrence-free living after living donor renal transplantation: a case report
저자
by
Horibe, Yuki
;
Yamanaka, Kazuaki
;
Kaimori, Junya
;
Miyata, Yuji
;
Fukae, Shota
, et al.
소스
CEN Case Reports: Official Publication of the Japanese Society of Nephrology
. :1-5
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7 . Academic Journal
Human leukocyte antigen-DQ risk heterodimeric haplotypes of left ventricular dysfunction in cardiac sarcoidosis: an autoimmune view of its role.
저자
by
Yamamoto, Hironori
;
Miyashita, Yohei
;
Minamiguchi, Hitoshi
;
Hosomichi, Kazuyoshi
;
Yoshida, Shohei
, et al.
소스
Scientific Reports
. 11/13/2023, Vol. 13 Issue 1, p1-15. 15p.
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7 . Academic Journal
A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.
저자
by
Moriwaki, Takahito
;
Masuno, Mitsuo
;
Nagata, Miho
;
Ishihara, Yasuki
;
Miyashita, Yohei
, et al.
소스
Human Genome Variation; 10/16/2023, Vol. 10 Issue 1, p1-4, 4p
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7 . Academic Journal
Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2‐associated syndrome.
저자
by
Kurosaka, Hiroshi
;
Yamamoto, Sayuri
;
Hirasawa, Kyoko
;
Yanagishita, Tomoe
;
Fujioka, Kaoru
, et al.
소스
American Journal of Medical Genetics. Part A; Jul2023, Vol. 191 Issue 7, p1984-1989, 6p
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7 .
Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency
저자
by
Yagasaki, Hideaki
;
Narusawa, Hiromune
;
Watanabe, Daisuke
;
Kobayashi, Koji
;
Mitsui, Hiroshi
, et al.
소스
In
European Journal of Medical Genetics
December 2023 66(12)
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7 . Academic Journal
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.
저자
by
Eto, Kaoru
;
Machida, Osamu
;
Yanagishita, Tomoe
;
Shimojima Yamamoto, Keiko
;
Chiba, Kentaro
, et al.
소스
Human Genome Variation; 12/5/2022, Vol. 9 Issue 1, p1-5, 5p
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7 . Academic Journal
Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.
저자
by
Yagasaki, Hideaki
;
Sano, Fumikazu
;
Narusawa, Hiromune
;
Watanabe, Daisuke
;
Kaga, Yoshimi
, et al.
소스
American Journal of Medical Genetics. Part A; Aug2022, Vol. 188 Issue 8, p2466-2471, 6p
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