Results 91 to 100 of about 1,212 (266)
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
GlobPlot: exploring protein sequences for globularity and disorder. Nucl Acids Res
, 2003 A major challenge in the proteomics and structural genomics era is to predict protein structure and function, including identification of those proteins that are partially or wholly unstructured.
Victor Neduva +3 more
core
Microstructure and rheological behavior of grain refined and modified semi-solid A356 Al–Si slurries
, 2006 A comprehensive study was carried out to establish the effect of melt treatment using Ti-B grain refiner and Sr modifier additions on the microstructural evolution and rheological properties of A356 aluminum alloy in the semisolid state. Rheocast billets
Ghomashchi, R. +9 more
core +1 more source
Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer +4 more
wiley +1 more source
Advanced NanoBiomed Research, EarlyView.This study presents a label‐free spectroscopic platform to evaluate membrane protein conformation on patient‐derived glioblastoma cell membrane‐coated magnetic nanovectors. This work demonstrates that preserving membrane protein integrity during nanoparticle fabrication enhances homotypic tumor targeting and reduces hard protein corona formation ...
Daniele De Pasquale +16 more
wiley +1 more source
Polyproline: A Synthetic Polypeptide With Unique Properties
Angewandte Chemie, EarlyView.Poly‐L‐proline is a unique polypeptide distinguished by its well‐defined secondary structures and unusual thermal behavior. This mini review highlights recent advances in the synthesis of poly‐L‐proline by N‐carboxyanhydride (NCA) polymerization, the formation of structurally defined architectures and nanostructures, and emerging strategies that ...
Rosanna Le Scouarnec +3 more
wiley +1 more source
Globular Clusters and Galaxy Formation [PDF]
, 2008 8 pages, 6 figures, Globular Clusters - Guides to Galaxies ...
openaire +3 more sources
Relativistic Binaries in Globular Clusters [PDF]
Living Reviews in Relativity, 2002 Updated version, 58 pages, 10 figures. Minor revisions to sections 1, 2, and 4. Substantial additions to sections 3 (to incorporate new observations) and 5 (to include new population synthesis models).
openaire +8 more sources
The Effects of Different Cooling Rate Conditions on the Thermal Profile and Microstructure of Al-Si Alloy with Magnesium Addition [PDF]
Thermal analysis is a technique that has played an important role in the characterization and development of the material. The aim of this study is to investigate the effect of magnesium addition on the cooling rate of an Al-Si alloy with magnesium ...
Juliawati, Alias +4 more
core +1 more source
Globular Cluster Microlensing: Globular Clusters as Microlensing Targets
, 1997 6 pages, uses mn.sty, 2 ...
Gyuk, Geza, Holder, Gilbert P.
openaire +2 more sources