Resultados de procura - Shirui Han

Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family por Rongrong Wang, Shirui Han, Shirui Han, Hongyan Liu, Amjad Khan, Amjad Khan, Habulieti Xiaerbati, Xue Yu, Xue Yu, Jia Huang, Jia Huang, Xue Zhang

Ligazón do recurso

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort por Amjad Khan, Shirui Han, Rongrong Wang, Muhammad Ansar, Wasim Ahmad, Xue Zhang

Ligazón do recurso

Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families por Liwei Sun, Amjad Khan, Han Zhang, Shirui Han, Xiaerbati Habulieti, Rongrong Wang, Xue Zhang

Ligazón do recurso

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract por Jingyan Li, Yunji Leng, Shirui Han, Lulu Yan, Chaoxia Lu, Yang Luo, Xue Zhang, Lihua Cao

Ligazón do recurso

Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome por Chao Ling, Wei Yang, Hailang Sun, Ming Ge, Yuanqi Ji, Shirui Han, Di Zhang, Xue Zhang

Ligazón do recurso

The pathogenic mechanism of syndactyly type V identified in a Hoxd13Q50R knock-in mice por Han Wang, Xiumin Chen, Xiaolu Meng, Yixuan Cao, Shirui Han, Keqiang Liu, Ximeng Zhao, Xiuli Zhao, Xue Zhang

Ligazón do recurso

Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10 por Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel, Xue Zhang

Ligazón do recurso

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10 por Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadheland, Xue Zhang

Ligazón do recurso

A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family por Amjad Khan, Amjad Khan, Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Mohammad A. Alshabeeb, Muhammad Ansar, Wasim Ahmad, Manal Alaamery, Xue Zhang, Xue Zhang

Ligazón do recurso