Shi P. Ma

Genetic Diseases Key Laboratory Of Sichuan Province
Chengdu, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 27 publications

Optical genome mapping as a diagnostic tool for unsolved balanced translocations in couples with adverse pregnancy outcomes: a case series.

Optical genome mapping as a diagnostic tool for unsolved balanced translocations in couples with adverse pregnancy outcomes: a case series.

Journal: European journal of medical research

Published: September 11, 2025

The effect of ketogenic diet on adipokines levels: a systematic review and meta-analysis of randomized-controlled trials.

The effect of ketogenic diet on adipokines levels: a systematic review and meta-analysis of randomized-controlled trials.

Journal: Acta diabetologica

Published: May 03, 2024

Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings.

Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings.

Journal: Frontiers in neurology

Published: March 01, 2024

Overexpression of Twist1 in vascular endothelial cells promotes pathological retinal angiogenesis in mice.

Overexpression of Twist1 in vascular endothelial cells promotes pathological retinal angiogenesis in mice.

Journal: Zoological research

Published: November 30, 2021

Diagnosis of the accurate genotype of HKαα carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction.

Diagnosis of the accurate genotype of HKαα carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction.

Journal: Chinese medical journal

Published: May 21, 2020

Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.

Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.

Journal: The Journal of clinical investigation

Published: May 04, 2020

Detection of serum IgM and IgG for COVID-19 diagnosis.

Detection of serum IgM and IgG for COVID-19 diagnosis.

Journal: Science China. Life sciences

Published: March 03, 2020

Comparison of different samples for 2019 novel coronavirus detection by nucleic acid amplification tests.

Comparison of different samples for 2019 novel coronavirus detection by nucleic acid amplification tests.

Journal: International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases

Published: February 17, 2020

Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India.

Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial Exudative Vitreoretinopathy in South India.

Journal: Genetic testing and molecular biomarkers

Published: January 31, 2020

Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.

Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.

Journal: PLoS genetics

Published: December 28, 2018

A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia.

A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia.

Journal: Ophthalmic genetics

Published: June 15, 2018

Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.

Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.

Journal: Human molecular genetics

Published: April 02, 2018

Showing 1-12 of 27

Last Updated: 09/26/2026