Keiko Y. Shimojima

Tokyo, Japan

Last Updated: 09/26/2026

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Found 91 publications

Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.

Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.

Journal: Intractable & rare diseases research

Published: June 08, 2022

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.

Journal: Seizure

Published: August 13, 2018

A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.

A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.

Journal: Intractable & rare diseases research

Published: September 26, 2017

Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA.

Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA.

Journal: Human genome variation

Published: September 20, 2017

A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation.

A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation.

Journal: Human genome variation

Published: August 09, 2017

Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome.

Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome.

Journal: Congenital anomalies

Published: June 30, 2017

A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.

A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.

Journal: Intractable & rare diseases research

Published: June 06, 2017

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

Journal: Human genome variation

Published: May 31, 2017

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.

Journal: European journal of medical genetics

Published: May 24, 2017

A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.

A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.

Journal: Human genome variation

Published: April 04, 2017

Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.

Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.

Journal: Journal of pediatric genetics

Published: March 10, 2017

Somatic mosaic deletions involving SCN1A cause Dravet syndrome.

Somatic mosaic deletions involving SCN1A cause Dravet syndrome.

Journal: American journal of medical genetics. Part A

Published: February 20, 2017

Showing 1-12 of 91

Last Updated: 09/26/2026