Prediction of optically-active transitions in type-VIII guest-free silicon clathrate Si46: A comparative study of its physical properties with type-I counterpart through first-principles
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Applied Physics"
DOI: 10.1063/1.4999985
Abstract: We have systematically studied the structural, electronic, and optical properties of two types of guest-free Si46 silicon clathrates using first-principles density-functional theory calculations. The properties are compared between two different crystal structures with the same… read more here.
Keywords: guest free; si46; type viii; silicon ... See more keywords
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum.
Sign Up to like & getrecommendations! Published in 2023 at "Cold Spring Harbor molecular case studies"
DOI: 10.1101/mcs.a006260
Abstract: Osteogenesis imperfecta (OI) is a heritable disorder of bone metabolism characterized by multiple fractures with minimal trauma. Autosomal recessive OI type VIII is associated with biallelic pathogenic variants in P3H1 and classically characterized by skeletal… read more here.
Keywords: missense; predicted loss; variant; type viii ... See more keywords
Midterm Outcomes After Arthroscopic Repair of Type VIII SLAP Lesions in Active Duty Military Patients Younger Than 35 Years
Sign Up to like & getrecommendations! Published in 2022 at "Orthopaedic Journal of Sports Medicine"
DOI: 10.1177/23259671221095908
Abstract: Background: Superior labrum from anterior to posterior (SLAP) lesions represent a significant cause of shoulder pain and disability among active duty members of the US military. However, few data exist regarding the surgical management of… read more here.
Keywords: repair; type viii; viii slap; active duty ... See more keywords
Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Medical Case Reports"
DOI: 10.1186/s13256-017-1387-z
Abstract: BackgroundHereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays… read more here.
Keywords: autonomic neuropathy; sensory autonomic; type viii; hereditary sensory ... See more keywords