Results 121 to 130 of about 1,974,376 (233)

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome

open access: yesAmerican Journal of Medical Genetics. Part A, 2019
Hartsfield syndrome is a rare clinical entity characterized by holoprosencephaly and ectrodactyly with the variable feature of cleft lip/palate. In addition to these symptoms patients with Hartsfield syndrome can show developmental delay of variable ...
C. Courage   +10 more
semanticscholar   +1 more source

Economic Impact of Sustainability in Wine Sector: A Systematic Literature Review

open access: yesAgribusiness, EarlyView.
ABSTRACT Sustainability has become a key issue in the wine sector, raising questions about its compatibility with firms' economic performance. Despite growing attention to environmental and social practices, evidence on their economic implications remains fragmented.
Valentina Di Chiara   +2 more
wiley   +1 more source

Evolutionary Diagnosis of non-synonymous variants involved in differential drug response

open access: yesBMC Medical Genomics, 2015
BackgroundMany pharmaceutical drugs are known to be ineffective or have negative side effects in a substantial proportion of patients. Genomic advances are revealing that some non-synonymous single nucleotide variants (nsSNVs) may cause differences in ...
Nevin Z Gerek   +5 more
semanticscholar   +1 more source

Hurdles to horizontal gene transfer: synonymous variation determines antibiotic resistance phenotype across species

open access: yes
Evidence that synonymous mutations and synonymous gene variants have fitness effects have accumulated recently. Since horizontal gene transfer represents a change in the genome of expression of the transferred gene, we hypothesized that the codon usage ...
Hamet, Jeanne   +4 more
core   +1 more source

A Generalizable Framework for Building Executable Domain‐Specific Large Language Models Under Data Scarcity: Demonstration on Semiconductor Technology Computer‐Aided Design Simulation

open access: yesAdvanced Intelligent Systems, EarlyView.
A schema‐first alignment framework builds compact, executable domain‐specific language models under data scarcity. Large‐scale synthetic question‐answer generation instills domain knowledge, and a code‐centric IR‐to‐DPO pipeline aligns generation with tool‐executable syntax.
Di Wang   +4 more
wiley   +1 more source

Functional Characterization Improves Associations between Rare Non-Synonymous Variants in CHRNB4 and Smoking Behavior

open access: yesPLoS ONE, 2014
Smoking is the leading cause of preventable death worldwide. Accordingly, effort has been devoted to determining the genetic variants that contribute to smoking risk.
Gabe Haller   +5 more
semanticscholar   +1 more source

High‐elevation endemic plants predicted to lose habitat from changing climate in Washington State

open access: yesAmerican Journal of Botany, EarlyView.
Abstract Premise High‐elevation plants face unique challenges from potential climate change impacts that will likely require upslope migration into increasingly smaller suitable habitat. This situation is particularly acute for endemic species that by definition occupy small geographic ranges.
Nicholas L. Gjording   +4 more
wiley   +1 more source

Description of non-synonymous exonic variants in the 53.5–55.5 Mb region of SSC11.

open access: yes, 2013
Description of non-synonymous exonic variants in the 53.5–55.5 Mb region of SSC11.
Rob Ogden (145264)   +9 more
core   +1 more source

Polymer Concepts in Cellular Function

open access: yes
Advanced Science, EarlyView.
Miao Yu   +7 more
wiley   +1 more source

Community partner perspectives on community‐academic health research partnerships with Black American communities: A scoping review

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract Evaluations of community‐engaged research (CEnR) typically emphasize health outcomes rather than the partnership processes that contribute to intervention effectiveness. This scoping review synthesized community partner‐identified strategies for successful community‐academic health research partnerships with Black American communities and ...
Kaylyn A. Garcia   +6 more
wiley   +1 more source

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