原著論文1
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原著論文2
Aoki Y, Niihori T, Banjo T, et al.
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原著論文3
Masamune A, Nakano E, Kume K, et al.
PRSS1 c.623G>C (p.G208A) variant is associated with pancreatitis in Japan.
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原著論文4
Izumi R, Niihori T, Aoki Y, et al.
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.
J Hum Genet
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原著論文5
Masamune A, Nakano E, Kume K, et al.
Identification of novel missense CTRC variants in Japanese patients with chronic pancreatitis.
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原著論文6
Ogata T, Niihori T, Tanaka N, et al.
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
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原著論文7
Fukami M, Iso M, Sato N, et al.
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.
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原著論文8
Nakagawa K, Gonzalez-Roca E, Souto A, et al.
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by
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原著論文9
Wada T, Sakakibara Y, Nishimura R, et al.
Down-regulation of CD5 expression on activated CD8(+) T cells in familial hemophagocytic lymphohistiocytosis with perforin gene mutations.
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原著論文10
Lee YW, Yang EA, Kang HJ, Yang X, Mitsuiki N, et al.
Novel mutation of IL2RG gene in a Korean boy with X-linked severe combined immunodeficiency.
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原著論文11
Kamae C, Nakagawa N, Sato H, et al.
Common variable immunodeficiency classification by quantifying T-cell receptor and immunoglobulin
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原著論文12
Purevsuren J, Kobayashi H, Hasegawa Y, et al.
Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.
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原著論文13
Shi D, Takano Y, Nakazawa T, et al.
Molecular Genetic Analysis of Primary Open-angle Glaucoma, Normal Tension Glaucoma, and Developmental Glaucoma for the VAV2 and VAV3 Gene Variants in Japanese Subjects.
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原著論文14
Tsuchiya T, Shibata M, Numabe H, et al.
Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestsations of Langer mesomelic dysplasia.
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