Results 101 to 110 of about 16,338 (222)
New divisors in the boundary of the instanton moduli space
, 2018 Let ${\mathcal I}(n)$ denote the moduli space of rank $2$ instanton bundles of charge $n$ on ${\mathbb P}^3$. It is known that ${\mathcal I}(n)$ is an irreducible, nonsingular and affine variety of dimension $8n-3$.
Jardim, M. +2 more
core
Etiological Point Mutations in the Hereditary Multiple Exostoses Gene EXT1: A Functional Analysis of Heparan Sulfate Polymerase Activity [PDF]
, 2001 Peter K. Cheung +5 more
openalex +1 more source
Abstract 1388: Structural basis for heparan sulfate co-polymerase action by the EXT1-2 complex
, 2023 Kelley W. Moremen +5 more
openalex +1 more source
Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma [PDF]
, 2021 Guangzhi Yuan +6 more
openalex +1 more source
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas
Therapeutics and Clinical Risk Management, 2016 Susan Akbaroghli,1,* Maryam Balali,2,* Behnam Kamalidehghan,3,4 Siamak Saber,4 Omid Aryani,5 Goh Yong Meng,6 Massoud Houshmand4 1Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, 2ENT and Head & Neck Research Center ...
Akbaroghli S +6 more
doaj
A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas
GenesMultiple osteochondromas (MO) is an autosomal dominant disorder and the most common genetic skeletal dysplasia, characterized by the growth of bone outgrowths capped by cartilage, called osteochondromas. Most MO cases are caused by mutations in the exostosin-1 (EXT1) and exostosin-2 (EXT2) genes.
Isabella Bartolotti +7 more
openaire +2 more sources