Nobuaki Wakamatsu
Takamatsu, Japan
Last Updated: 09/26/2026
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Found 24 publications
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.
Journal: European journal of medical genetics
Published: July 10, 2023
R3HDM1 haploinsufficiency is associated with mild intellectual disability.
Journal: American journal of medical genetics. Part A
Published: November 04, 2020
Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report.
Journal: Epilepsy & behavior reports
Published: July 21, 2020
Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation.
Journal: Human mutation
Published: January 07, 2020
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.
Journal: Gene
Published: November 15, 2017
Isozyme-Specific Role of SAD-A in Neuronal Migration During Development of Cerebral Cortex.
Journal: Cerebral cortex (New York, N.Y. : 1991)
Published: November 15, 2017
High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.
Journal: PloS one
Published: February 14, 2017
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.
Journal: Human mutation
Published: January 11, 2017
The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).
Journal: Oncotarget
Published: December 21, 2016
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.
Journal: Scientific reports
Published: November 29, 2016
Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3.
Journal: Congenital anomalies
Published: November 18, 2016
Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.
Journal: American journal of medical genetics. Part A
Published: November 14, 2016
Last Updated: 09/26/2026