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1 . Academic Journal
Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis
저자
by
Daisuke Watanabe
;
Nobuhiko Okamoto
;
Yuichi Kobayashi
;
Hisato Suzuki
;
Mitsuhiro Kato
, et al.
소스
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
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7 . Dissertation/ Thesis
한국과 일본의 조형적 특성에 관한 비교 연구 / A Comparative Study on the Formative Characteristics of Korea and Japan
저자
by
야마다 마미코 / Mamiko Yamada
.
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3 . Academic Journal
A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog–Scott syndrome
저자
by
Atsuko Noguchi
;
Daiki Kondo
;
Hisato Suzuki
;
Ikuko Takahashi
;
Kenjiro Kosaki
, et al.
소스
Clinical Pediatric Endocrinology. 2024, 33(1):39
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7 . Academic Journal
Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
저자
by
Mamiko Yamada
;
Kazuhiro Maeta
;
Hisato Suzuki
;
Ryo Kurosawa
;
Toshiki Takenouchi
, et al.
소스
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
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7 . Academic Journal
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
저자
by
Ryo Kurosawa
;
Kei Iida
;
Masahiko Ajiro
;
Tomonari Awaya
;
Mamiko Yamada
, et al.
소스
BMC Genomics, Vol 24, Iss 1, Pp 1-14 (2023)
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7 . Academic Journal
Oculofaciocardiodental syndrome caused by a novel BCOR variant
저자
by
Tomoyo Yamashita
;
Junko Hotta
;
Yukiko Jogu
;
Eri Sakai
;
Chie Ono
, et al.
소스
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
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7 . Academic Journal
Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report
저자
by
Shogo Ouchi
;
Kazuhiro Ishii
;
Kenjiro Kosaki
;
Hisato Suzuki
;
Mamiko Yamada
, et al.
소스
BMC Neurology, Vol 23, Iss 1, Pp 1-6 (2023)
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7 . Academic Journal
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report
저자
by
Mamiko Yamada
;
Hisato Suzuki
;
Hiroyuki Adachi
;
Atsuko Noguchi
;
Fuyuki Miya
, et al.
소스
BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)
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7 . Academic Journal
Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
저자
by
Keisuke Watanabe
;
Atsuko Noguchi
;
Ikuko Takahashi
;
Mamiko Yamada
;
Hisato Suzuki
, et al.
소스
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
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7 . Academic Journal
Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers–Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase
저자
by
Yuji Yoshikawa
;
Takashi Koto
;
Tomoka Ishida
;
Tomoko Uehara
;
Mamiko Yamada
, et al.
소스
Journal of Clinical Medicine, Vol 12, Iss 5, p 1728 (2023)
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