Huiping Li

399 Wanyuan Road
Shanghai, 201102, China

Last Updated: 09/26/2026

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Found 30 publications

Rare 19q13.42 duplication encompassing PRKCG associated with neurodevelopmental abnormalities.

Rare 19q13.42 duplication encompassing PRKCG associated with neurodevelopmental abnormalities.

Journal: Translational pediatrics

Published: January 20, 2026

Growth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights.

Growth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights.

Journal: The American journal of case reports

Published: December 29, 2025

Implementing a parent-mediated intervention for toddlers with ASD within the Chinese child healthcare system: a real-world study.

Implementing a parent-mediated intervention for toddlers with ASD within the Chinese child healthcare system: a real-world study.

Journal: BMJ paediatrics open

Published: December 16, 2025

Early Screening of Autism in Toddlers via Express-Needs-With-Pointing Protocol.

Early Screening of Autism in Toddlers via Express-Needs-With-Pointing Protocol.

Journal: IEEE journal of biomedical and health informatics

Published: March 03, 2025

Molecular genetic testing and cohort analysis of 32 twin pairs with neurodevelopmental disorders-Reporting a novel de novo variant of TET3.

Molecular genetic testing and cohort analysis of 32 twin pairs with neurodevelopmental disorders-Reporting a novel de novo variant of TET3.

Journal: Human genomics

Published: October 20, 2024

Intravenous esketamine in pediatric Rett syndrome: An open-label, early phase 1 pilot study.

Intravenous esketamine in pediatric Rett syndrome: An open-label, early phase 1 pilot study.

Journal: Molecular therapy. Methods & clinical development

Published: July 12, 2024

Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype-Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.

Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype-Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.

Journal: Children (Basel, Switzerland)

Published: June 17, 2024

Computational Interpersonal Communication Model for Screening Autistic Toddlers: A Case Study of Response-to-Name.

Computational Interpersonal Communication Model for Screening Autistic Toddlers: A Case Study of Response-to-Name.

Journal: IEEE journal of biomedical and health informatics

Published: April 16, 2024

AAV-mediated Stambp gene replacement therapy rescues neurological defects in a mouse model of microcephaly-capillary malformation syndrome.

AAV-mediated Stambp gene replacement therapy rescues neurological defects in a mouse model of microcephaly-capillary malformation syndrome.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: April 08, 2024

Clinical impact and in vitro characterization of ADNP variants in pediatric patients.

Clinical impact and in vitro characterization of ADNP variants in pediatric patients.

Journal: Molecular autism

Published: October 27, 2023

Corrigendum: The incidence and clinical characteristics of fragile X syndrome in China.

Corrigendum: The incidence and clinical characteristics of fragile X syndrome in China.

Journal: Frontiers in pediatrics

Published: September 18, 2023

Social Recognition of Joint Attention Cycles in Children With Autism Spectrum Disorders.

Social Recognition of Joint Attention Cycles in Children With Autism Spectrum Disorders.

Journal: IEEE transactions on bio-medical engineering

Published: July 18, 2023

Showing 1-12 of 30

Last Updated: 09/26/2026