Moeko Nakashima

Tokyo, Japan

Last Updated: 09/26/2026

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Found 15 publications

Phenotypic and Genetic Insights Into CNOT3-Related Intellectual Developmental Disorder of Speech Delay, Autism, and Dysmorphic Faces (IDDSADF) From the First Two Japanese Cases.

Phenotypic and Genetic Insights Into CNOT3-Related Intellectual Developmental Disorder of Speech Delay, Autism, and Dysmorphic Faces (IDDSADF) From the First Two Japanese Cases.

Journal: American journal of medical genetics. Part A
Published: March 11, 2026

Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population.

Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population.

Journal: Journal of medical genetics
Published: October 18, 2025

A de novo HK1 Variant in a Boy Fulfilling the Diagnostic Criteria for Tuberous Sclerosis Complex: Expanding the Phenotypic Spectrum of NEDVIBA.

A de novo HK1 Variant in a Boy Fulfilling the Diagnostic Criteria for Tuberous Sclerosis Complex: Expanding the Phenotypic Spectrum of NEDVIBA.

Journal: American journal of medical genetics. Part A
Published: March 31, 2025

C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations.

C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations.

Journal: Journal of human genetics
Published: October 16, 2023

The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.

The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.

Journal: Cancer science
Published: October 24, 2022

A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

Journal: Human genome variation
Published: November 16, 2021

Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2.

Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2.

Journal: American journal of medical genetics. Part A
Published: October 27, 2020

Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome.

Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome.

Journal: Journal of medical genetics
Published: March 18, 2020

The effect of fecal microbiota transplantation on psychiatric symptoms among patients with irritable bowel syndrome, functional diarrhea and functional constipation: An open-label observational study.

The effect of fecal microbiota transplantation on psychiatric symptoms among patients with irritable bowel syndrome, functional diarrhea and functional constipation: An open-label observational study.

Journal: Journal of affective disorders
Published: January 30, 2018

Bifidobacterium-Rich Fecal Donor May Be a Positive Predictor for Successful Fecal Microbiota Transplantation in Patients with Irritable Bowel Syndrome.

Bifidobacterium-Rich Fecal Donor May Be a Positive Predictor for Successful Fecal Microbiota Transplantation in Patients with Irritable Bowel Syndrome.

Journal: Digestion
Published: February 09, 2017

Fecal microbiota transplantation for recurrent Clostridium difficile infection in a patient with ulcerative colitis.

Fecal microbiota transplantation for recurrent Clostridium difficile infection in a patient with ulcerative colitis.

Journal: Intestinal research
Published: February 06, 2017

Single fecal microbiota transplantation failed to change intestinal microbiota and had limited effectiveness against ulcerative colitis in Japanese patients.

Single fecal microbiota transplantation failed to change intestinal microbiota and had limited effectiveness against ulcerative colitis in Japanese patients.

Journal: Intestinal research
Published: September 09, 2016
Showing 1-12 of 15

Last Updated: 09/26/2026