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Lista de obras de Jun Shen

A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia

scientific article published on 12 November 2018

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children

scientific article published on 07 June 2019

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

artículo científico publicado en 2021

Associations of urinary polycyclic aromatic hydrocarbons with age at natural menopause in U.S. women aged 35-65, NHANES 2003-2012

artículo científico publicado en 2018

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

artículo científico publicado en 2019

Gene Expression by Mouse Inner Ear Hair Cells during Development

artículo científico publicado en 2015

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

artículo científico publicado en 2015

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing

artículo científico publicado en 2018

The association between sixteen genome-wide association studies-related allergic diseases loci and childhood allergic rhinitis in a Chinese Han population

scientific article published on 28 August 2018

The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis

artículo científico publicado en 2019

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