Results 111 to 120 of about 72,857 (290)
Lammert de Hoop, Arno Bornebroek, De rode dominee. A.S. Talma
Piet Hazenbosch
doaj +1 more source
Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani +7 more
wiley +1 more source
Unambiguously phased CNV regions in families.
Percentage of CNV regions in HapMap YRI and EGCUT families where PiCNV was automatically able to unambiguously determine the underlying normal and CNV-carrying haplotypes in parents and follow their transmission in offspring.
Priit Palta (116414) +9 more
core +1 more source
Elongation (ELG) method for calculating the electronic structures of aperiodic polymers was combined with dissipative particle dynamics (DPD) simulation to perform more reliable simulations using quantum chemistry (QC)‐based parameters. The method was employed to analyze phase separation in an amine‐containing CO2 capture membrane, and the results ...
Yuuichi Orimoto, Yuriko Aoki
wiley +1 more source
Genetic Analysis of a Mosaic Fra(16)(q22)/Del(16)(q22) Karyotype in a Primary Infertile Woman
Guiyuan He,1,* Xi Wang,1,* Beiqing Li,1 Lei Wang,1 Jing Zhang,2 Yang Shi,1 Wenxiu Zhu,1 Ming Shi1,3 1Centre for Reproductive and Genetic Medicine, Dalian Women and Children’s Medical Group, Dalian, People’s Republic of China; 2Department of ...
He G +7 more
doaj
Immunohistochemistry as a tool for identifying PDGFRA amplification in central nervous system tumors. [PDF]
PDGFRA gene amplification is now recognized as a diagnostically and prognostically relevant molecular alteration in central nervous system tumors. Herein, we demonstrated that PDGFRA immunohistochemistry is a highly specific and sensitive biomarker for identifying PDGFRA amplification and should be part of the neuropathologist's routine panel of ...
Tauziède-Espariat A +5 more
europepmc +2 more sources
The role of Rho GTPases in facial morphogenesis
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley +1 more source
Globally, age-related macular degeneration (AMD) is the leading cause of irreversible visual impairment. Up to 80% of severe vision loss is caused by AMD, which is characterized by the development of choroidal neovascularization (CNV). Uncertainty exists
Yuanyuan Tu +7 more
doaj +1 more source
Post-filter CNV counts and relative CNV frequency.
The CNV counts shown here represent the 43,560 candidate CNVs that remain after applying the Post-filter. The first column shows a specific CNV count. The second set of columns show the number of control and case individuals observed at each given CNV ...
Rakesh Chettier (73475) +2 more
core +1 more source

