原著論文1
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Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia
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原著論文2
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Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders
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原著論文3
Yamamoto T, Wilsdon A, Joss S, et al.
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia, and behavioral abnormalities
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原著論文4
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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
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原著論文5
Yamamoto T, Togawa M, Shimada S, et al.
Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4
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原著論文6
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7
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Peripheral oxytocin activates vagal afferent neurons to suppress feeding in normal and leptin-resistant mice: a route for ameliorating hyperphagia and obesity
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原著論文8
Maejima Y, Rita RS, Santoso P, et al.
Nasal Oxytocin Administration Reduces Food Intake without Affecting Locomotor Activity and Glycemia with c-Fos Induction in Limited Brain Areas.
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原著論文9
Shimada S, Shimojima K, Okamoto N, et al.
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications
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原著論文10
Yamamoto T, Mencarelli MA, Di Marco C, et al.
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA
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原著論文11
Oka M, Shimojima K, Yamamoto T, et al.
A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.
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原著論文12
Sangu N, Okamoto N, Shimojima K, et al.
A de novo microdeletion in a patient with inner ear abnormalities suggests the existence of the responsible gene in 10q26.13
Human Genome Var
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原著論文13
Shimojima K, Okamoto N, Yamamoto T.
A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.
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原著論文14
Shimojima K, Okumura A, Hayashi M, et al.
CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly.
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原著論文15
Yamamoto T, Shimojima K.
A novel MED12 mutation associated with non-specific X-linked intellectual disability.
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原著論文16
Banno K, Omori S, Hirata K, et al.
Systematic cellular disease models reveal synergistic interaction of trisomy 21 and GATA1 mutations in hematopoietic abnormalities
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原著論文17
Yamamoto T, Yamamoto-Shimojima K, Ueda Y, et al.
Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism
Human Genome Var
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原著論文18
Yamamoto-Shimojima K, Okamoto N, Matsumura W, et al.
Three Japanese patients with 3p13 microdeletions involving FOXP1
Brain Dev
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原著論文19
Yanagishita T, Yamamoto-Shimojima K, Nakano S, et al.
Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan
Brain Dev
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原著論文20
Shimada S, Hirasawa K, Takeshita A, et al.
Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome
Am J Med Genet A
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