原著論文1
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原著論文2
Miyatake S, Osaka H, Shiina M, et al
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
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原著論文3
Tsurusaki Y, Koshimizu E, Ohashi H, et al
De novo SOX11 mutations cause Coffin-Siris syndrome.
Nat Commun
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原著論文4
Nakashima M, Kashii H, Murakami Y, et al
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.
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原著論文5
Saitsu H, Yamashita S, Tanaka Y, et al
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
J Hum Genet
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原著論文6
Saitsu H, Tohyama J, Walsh T, et al
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
J Hum Genet
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原著論文7
Ohba C, Nabatame S, Iijima Y, et al
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.
J Hum Genet
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原著論文8
Nakashima M, Takano K, Osaka H, et al
Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
J Hum Genet
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原著論文9
Nakashima M, Miyajima M, Sugano H, et al
The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.
J Hum Genet
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原著論文10
Kodera H, Osaka H, Iai M, et al
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
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原著論文11
Ohashi T, Akasaka N, Kobayashi Y, et al
Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.
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原著論文12
Ohba C, Kato M, Takahashi S, et al
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
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原著論文13
Nakamura K, Osaka H, Murakami Y, et al
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
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原著論文14
Nakamura K, Kato M, Tohyama J, et al
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.
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原著論文15
Nakajima J, Okamoto N, Tohyama J, et al
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
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原著論文16
Kodera H, Ando N, Yuasa I, et al
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.
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原著論文17
Nakashima M, Saitsu H, Takei N, et al
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
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