Search filters

List of works by Jia Huang

A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum ⬇️

scientific article published on 01 July 2019

A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy

scientific article published on 6 October 2016

Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations

scientific article published on 19 April 2016

Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family

scientific article published on January 2016

Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family

scientific article published on January 2017

Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases

scientific article published on 18 December 2019

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis

scientific article published on 19 March 2018

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

scientific article published on 29 October 2019

Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing

scientific article published on 02 November 2019

[Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene]

scientific article published on 01 January 2020

Paulina is supported by:

About Paulina

Help