Skip to search formSkip to main contentSkip to account menu

ACMG

National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
A novel COQ8A missense variant associated with a mild form of primary coenzyme Q10 deficiency type 4.
2019
2019
Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.
2019
2019
Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD…
Duchenne muscular dystrophy (DMD) is the most common form of inherited muscular dystrophy. Germline mutations in dystrophin (DMD… 
2013
2013
Incidental Swimming with Millstones
The medical genomics community needs carefully considered guidelines for the reporting of incidental findings. 
2013
2013
Deployment of a Fully-Automated Green Fluorescent Protein Imaging System in a High Arctic Autonomous Greenhouse
Higher plants are an integral part of strategies for sustained human presence in space. Space-based greenhouses have the… 
2013
2013
Ras pathway activation in breast cancer
sequence coverage of over 130β. Variants were classified as deleterious, of unknown clinical significance or benign on the basis… 
2010
2010
Erratum to: Congenital toxoplasmosis—a report on the Danish neonatal screening programme 1999–2007
2005
2005
A new poly-Si TG-TFT with diminished pseudosubthreshold region: theoretical investigation and analysis
In this paper, we have proposed a new poly-Si triple-gate thin-film transistor (TG-TFT) where the front gate consists of two… 
2005
2005
Medical geneticists in the 21st century
2002
2002
[Combined genioglossus advancement (ACMG): inferior sagittal mandibular osteotomy with genioglossus advancement and stabilization with suture in patients with OSAS. Preliminary clinical results].
Surgical treatment of obstructive sleep apnea syndrome (OSAS) centres on the identification of the level of obstruction of the… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)