Results 71 to 80 of about 3,991 (155)
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas [PDF]
Human Mutation, 2005 We describe the results of an optimised DHPLC-based mutation screening of the EXT1 and EXT2 genes in Italian patients affected by multiple osteochondromas [MO; also referred to as hereditary multiple exostoses (HME) in the literature], using a multistep approach.
Pedrini E +8 more
openaire +5 more sources
Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 5, Page 552-559, May 2025.ABSTRACT Objective To critically review the literature and synthesize evidence on the incremental yield of prenatal exome sequencing (PES) in fetuses with an apparently normal phenotype with a normal G‐banded karyotype or chromosomal microarray (CMA).
A. Sotiriadis +5 more
wiley +1 more source
The FEBS Journal, Volume 292, Issue 9, Page 2237-2250, May 2025.Vesicle trafficking governs the biosynthesis of heparan sulfate (HS) by controlling the positioning of HS‐modifying enzymes within Golgi compartments. The proteins Rab1A and Rab2A play dynamic, compensatory roles that affect HS levels by influencing the transport of these enzymes.
Maria C. Z. Meneghetti +4 more
wiley +1 more source
An efficient technique for enhancing forensic capabilities of Ext2 file system
Digital Investigation, 2007 As electronic documents become more important and valuable in the modern era, attempts are invariably made to take undue-advantage by tampering with them. Tampering with the modification, access and creation date and time stamps (MAC DTS) of digital documents pose a great threat and proves to be a major handicap in digital forensic investigation ...
Mridul Sankar Barik +4 more
openaire +1 more source
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses
Prenatal Diagnosis, Volume 45, Issue 3, Page 276-286, March 2025.Abstract Objective This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low‐risk pregnancies and apparently normal fetuses in non‐consanguineous couples. Methods A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed.
Michal Levy +9 more
wiley +1 more source
Open-array analysis of genetic variants in Egyptian patients with type 2 diabetes and obesity
Egyptian Journal of Medical Human Genetics, 2017 Background: Diabetes mellitus is considered a major public health problem worldwide. Susceptibility to diabetes is influenced by both genetic and environmental determinants.
Hanaa R.M. Attia +6 more
doaj +1 more source
Whole‐genome sequencing analysis of Japanese autism spectrum disorder trios
Psychiatry and Clinical Neurosciences, Volume 79, Issue 3, Page 87-97, March 2025.Aim Autism spectrum disorder (ASD) is a genetically and phenotypically heterogeneous neurodevelopmental disorder with a strong genetic basis. Conducting the first comprehensive whole‐genome sequencing (WGS) analysis of Japanese ASD trios, this study aimed to elucidate the clinical significance of pathogenic variants and enhance the understanding of ASD
Sawako Furukawa +12 more
wiley +1 more source
EFFICIENCY ANALYSIS OF HASHING METHODS FOR FILE SYSTEMS IN USER MODE [PDF]
Научно-технический вестник информационных технологий, механики и оптики, 2013 The article deals with characteristics and performance of interaction protocols between virtual file system and file system, their influence on processing power of microkernel operating systems. User mode implementation of ext2 file system for MINIX 3 OS
E. Y. Ivanov, M. S. Kosyakov
doaj
Cell Reports, 2015 Collective cell migration is a highly regulated morphogenetic movement during embryonic development and cancer invasion that involves the precise orchestration and integration of cell-autonomous mechanisms and environmental signals.
Marina Venero Galanternik +2 more
doaj +1 more source