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Tadashi Kaname

National Center For Child Health and Development

Research Interests

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Articles (20)

Collaborators (4)

Naoki Oishi

Keio University Hospital

Yoshio Makita

Tohoku University Hospital

Naomichi Matsumoto

Professor and Chair

Yokohama City University Graduate School of Medicine

Natsuhiko Yamada

Pediatrician

National Center For Child Health and Development

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Tadashi Kaname

Research Interests

Explore related searches

Articles (20)

Collaborators (4)

Naoki Oishi

Yoshio Makita

Naomichi Matsumoto

Natsuhiko Yamada

Make your next move.

Tadashi Kaname

Research Interests

Explore related searches

Articles (20)

CYCS-related thrombocytopenia in three Japanese families with a novel variant in one family

Biallelic deficiencies of FDPS are required for skin lesion formation in FDPS-associated porokeratosis

Hearing loss associated with CDC42 in mice and humans (Takenouchi–Kosaki syndrome): CDC42 and RHOQ synergistically function in cochlear hair cells

Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

CTBP1 In Brain Development: A Novel Variant c.107G>C,p.(R36P) Leads to a Distinct Neurodevelopmental Disorder

Camptodactyly and Early‐Onset Scoliosis in Snijders Blok–Campeau Syndrome

Clinical and Genetic Findings in Two Japanese Individuals With SET‐Related Neurodevelopmental Disorder

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing

Functional analysis of novel and recurrent RINT1 variants in patients with infantile liver dysfunction

A Clinical Study of Nine Patients With ReNU Syndrome

DNA methylation data from Japanese patients with Rubinstein–Taybi syndrome

Neuromuscular Defects in a Drosophila Model of the Congenital Disorder of Glycosylation SLC35A2-CDG

VarMeter: a prediction method for the impact of glycogene variants

Clinical Features of a Japanese Girl With Radio‐Tartaglia Syndrome due to a SPEN Truncating Variant

Siblings of hyaline fibromatosis syndrome with accumulation of sulfatide and GM3 ganglioside in addition to ceramide

ATP1A3 potentially causes hereditary spastic paraplegia: A case report of a patient presenting with lower limb spasticity and intellectual disability

A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures

Artificial intelligence in medical genomics

Biallelic loss‐of‐function variants of EZH1 cause a novel developmental disorder with central precocious puberty

Collaborators (4)

Naoki Oishi

Yoshio Makita

Naomichi Matsumoto

Natsuhiko Yamada

Make your next move.