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Aichi Developmental Disability Center | Researchclopedia

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Aichi Developmental Disability Center

Kasugaihealthcare

1,880

Works

79,695

Citations

110

h-index

Top Research Topics

S100 Proteins and Annexins Neuroscience and Neuropharmacology Research Genetics and Neurodevelopmental Disorders

Top Researchers

Nobutaka Hattori Kansai Medical University

1,889 works63,785 citationsh-index: 107

Recent Research

MSX1 variant causes nonsyndromic tooth agenesis in a Japanese patient

Yasuto Sano,Michiyo Ando,et al.

20260 citations

Epilepsy research and treatment

Ion channel regulation and function

Nerve injury and regeneration

Neurogenesis and neuroplasticity mechanisms

Glycosylation and Glycoproteins Research

Neonatal Health and Biochemistry

Neonatal and fetal brain pathology

Metabolism and Genetic Disorders

Mitochondrial Function and Pathology

T. Hasegawa Tohoku University

930 works58,208 citationsh-index: 111

Masao Tanaka Prefectural University of Hiroshima

1,948 works49,033 citationsh-index: 98

Yoshikuni Mizuno University of Fukui

567 works37,509 citationsh-index: 94

Lawrence A. Loeb

480 works37,311 citationsh-index: 96

Ryoichiro Kageyama University of Tsukuba

421 works36,084 citationsh-index: 105

Inherited glycosylphosphatidylinositol deficiency successfully treated with high-dose pyridoxine therapy initiated in adulthood: A case report

Momoko Yamamoto,Takeshi Suzuki,et al.

20260 citations

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype

Ilaria Parenti,Alina Hesters,et al.

20260 citations

Compound heterozygosity of EXOSC2 ‘missense’ variants causes a bi-allelic decrease in protein expression through novel unexpected pathomechanisms

Shin Hayashi,Kenichiro Yamada,et al.

20260 citations

Additional file 9 of Kcnq2 R213 knock-in mice reveal variant- and region-specific mechanisms underlying self-limited familial neonatal-infantile epilepsy and early infantile developmental and epileptic encephalopathy

Takuma Nishijo,Nanako Hamada,et al.

20260 citations

Independent <scp> <i>BRAF</i> </scp> Fusion Genes Cause Pigmented Nevi in Ring Chromosome 7 Syndrome

A. Miyazaki,Takuya Takeichi,et al.

20260 citations