Yanru Huang
The State Key Laboratory Of Medical Genetics, 110 Xiangya Road
Changsha, 410078, China
Changsha, 410078, China
Last Updated: 09/26/2026
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Found 8 publications
A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.
Journal: Familial cancer
Published: February 11, 2017
A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: July 19, 2016
Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.
Journal: BMC medical genetics
Published: October 11, 2015
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
Journal: American journal of medical genetics. Part A
Published: September 10, 2015
Morphometric analysis and developmental comparison of embryos from carriers with balanced chromosomal rearrangements in preimplantation genetic diagnosis cycles.
Journal: Reproduction, fertility, and development
Published: March 09, 2015
Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.
Journal: Molecular cytogenetics
Published: December 18, 2014
Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.
Journal: Gene
Published: October 09, 2014
Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 15, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026