Noriko Nomura

Kasugai, 4800392, Japan

Last Updated: 09/26/2026

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Found 12 publications

Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic Pleiotropy.

Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic Pleiotropy.

Journal: Molecular neurobiology

Published: July 31, 2025

Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.

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.

R3HDM1 haploinsufficiency is associated with mild intellectual disability.

Journal: American journal of medical genetics. Part A

Published: November 04, 2020

Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.

Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.

Journal: Gene

Published: November 15, 2017

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.

Journal: Human mutation

Published: January 11, 2017

Novel mutation in HPRT1 causing a splicing error with multiple variations.

Novel mutation in HPRT1 causing a splicing error with multiple variations.

Journal: Nucleosides, nucleotides & nucleic acids

Published: October 19, 2016

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.

Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.

Journal: Journal of medical genetics

Published: May 10, 2015

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.

Journal: Molecular genetics and metabolism reports

Published: October 03, 2014

Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.

Journal: Nucleosides, nucleotides & nucleic acids

Published: June 19, 2014

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.

The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.

Journal: American journal of medical genetics. Part A

Published: November 20, 2013

Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.

Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.

Journal: American journal of medical genetics. Part A

Published: July 30, 2013

Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.

Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.

Journal: Nucleosides, nucleotides & nucleic acids

Published: December 03, 2011

Showing 1-12 of 12

Last Updated: 09/26/2026