Time capsule for geotechnical risk and reliability
This paper is motivated by the Time Capsule Project (TCP) of the International Society for
Soil Mechanics and Geotechnical Engineering (ISSMGE). The historical developments of …
Soil Mechanics and Geotechnical Engineering (ISSMGE). The historical developments of …
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study—preliminary data
…, PC Patsalis, ML Giovannucci Uzielli… - American journal of …, 1999 - Wiley Online Library
The preliminary results of an international collaborative study examining premature
menopause in fragile X carriers are presented. A total of 760 women from fragile X families was …
menopause in fragile X carriers are presented. A total of 760 women from fragile X families was …
A conceptual framework for quantitative estimation of physical vulnerability to landslides
The paper illustrates a method for scenario-based, quantitative estimation of physical
vulnerability of the built environment to landslides. The rationale and main features of the …
vulnerability of the built environment to landslides. The rationale and main features of the …
Random field characterisation of stress-nomalised cone penetration testing parameters
Random field modelling of soil variability allows significant statistical results to be inferred
from field data; moreover, it provides a consistent framework for incorporating such variability …
from field data; moreover, it provides a consistent framework for incorporating such variability …
Soil variability analysis for geotechnical practice
The heterogeneity of natural soils is well known in geotechnical practice. However, the
importance of quantifying the resulting variability in geotechnical characterisation and design …
importance of quantifying the resulting variability in geotechnical characterisation and design …
Quantitative vulnerability estimation for scenario-based landslide hazards
Within the engineering profession and natural sciences, vulnerability is widely accepted to
be defined as the degree of loss (or damage) to a given element or set of elements within the …
be defined as the degree of loss (or damage) to a given element or set of elements within the …
[PDF][PDF] Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
…, DB Everman, A Fryer, K Gibson, MLG Uzielli… - The American Journal of …, 2014 - cell.com
Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder
characterized by cleft palate and congenital contractures of the hands and feet. Exome …
characterized by cleft palate and congenital contractures of the hands and feet. Exome …
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
…, D Donnai, ML Giovannucci-Uzielli… - Proceedings of the …, 1997 - National Acad Sciences
Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation. Typical cases
have 3/4 finger and 4/5 toe syndactyly, with a duplicated digit in the syndactylous web, but …
have 3/4 finger and 4/5 toe syndactyly, with a duplicated digit in the syndactylous web, but …
Identification of mutations in CUL7 in 3-M syndrome
…, K Wu, X Xu, K Pearce, R Wang, MLG Uzielli… - Nature …, 2005 - nature.com
Intrauterine growth retardation is caused by maternal, fetal or placental factors that result in
impaired endovascular trophoblast invasion and reduced placental perfusion 1 . Although …
impaired endovascular trophoblast invasion and reduced placental perfusion 1 . Although …
[PDF][PDF] De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
…, MN Berry, M Bocian, N Foulds, MLG Uzielli… - The American Journal of …, 2015 - cell.com
Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant
condition caused by mutations in MYH3 and characterized by multiple congenital …
condition caused by mutations in MYH3 and characterized by multiple congenital …