Shirui Han

State Key Laboratory Of Complex Severe And Rare Diseases, School Of Basic Medicine Peking Union Medical College
Beijing, 100005, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 13 publications

The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice.

The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice.

Journal: Bone research

Published: April 24, 2023

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.

Journal: Frontiers of medicine

Published: December 08, 2022

Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families.

Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families.

Journal: Frontiers in pediatrics

Published: July 19, 2020

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Journal: BMC medical genetics

Published: December 14, 2019

A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family.

A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family.

Journal: Frontiers in pediatrics

Published: June 11, 2019

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

Journal: BMC medical genetics

Published: April 25, 2019

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.

Journal: Molecular genetics & genomic medicine

Published: February 25, 2019

Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family.

Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family.

Journal: Frontiers in genetics

Published: January 29, 2019

Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.

Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.

Journal: Genetic testing and molecular biomarkers

Published: February 13, 2018

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

Journal: Orphanet journal of rare diseases

Published: February 08, 2018

A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family.

A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family.

Journal: Human genome variation

Published: August 15, 2017

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

Journal: Genetic testing and molecular biomarkers

Published: March 11, 2017

Showing 1-12 of 13

Last Updated: 09/26/2026