Li Tan

Wuhan, China

Last Updated: 09/26/2026

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Found 12 publications

Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes.

Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes.

Journal: Frontiers in genetics

Published: May 09, 2026

Fetal Fraction of Cell-Free DNA and Its Interaction With Maternal Pre-Pregnancy Body Mass Index on Multiple Adverse Pregnancy Outcomes.

Fetal Fraction of Cell-Free DNA and Its Interaction With Maternal Pre-Pregnancy Body Mass Index on Multiple Adverse Pregnancy Outcomes.

Journal: Prenatal diagnosis

Published: September 11, 2025

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.

Journal: Orphanet journal of rare diseases

Published: January 10, 2025

A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever.

A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever.

Journal: Scientific reports

Published: January 12, 2024

Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy.

Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy.

Journal: Frontiers in genetics

Published: September 04, 2022

A novel CARD11 germline mutation in a Chinese patient of B cell expansion with NF-κB and T cell anergy (BENTA) and literature review.

A novel CARD11 germline mutation in a Chinese patient of B cell expansion with NF-κB and T cell anergy (BENTA) and literature review.

Journal: Frontiers in immunology

Published: May 13, 2022

A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review.

A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review.

Journal: Molecular genetics & genomic medicine

Published: March 18, 2022

Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene.

Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene.

Journal: Molecular genetics & genomic medicine

Published: August 23, 2021

Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-κB and T Cell Anergy.

Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-κB and T Cell Anergy.

Journal: Frontiers in immunology

Published: March 05, 2021

A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.

A 9-month-old Chinese patient with Gabriele-de Vries syndrome due to novel germline mutation in the YY1 gene.

Journal: Molecular genetics & genomic medicine

Published: May 07, 2020

Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.

Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.

Journal: Frontiers in genetics

Published: February 27, 2020

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review.

Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review.

Journal: BMC medical genetics

Published: July 17, 2017

Showing 1-12 of 12

Last Updated: 09/26/2026