List of works by Tadahiro Mitani

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

scientific article published on 17 October 2019

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

scientific article published on 14 April 2020

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy

scientific article published on 04 October 2020

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

scientific article published on 01 January 2020

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

scientific article published on 24 October 2019

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

scientific article published on 15 September 2020

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

scientific article published on 24 November 2021

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