Results 241 to 250 of about 11,989 (309)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair   +9 more
wiley   +1 more source

Winter in the coastal ocean: Seasonal freezing causes seafloor expansion and contraction. [PDF]

open access: yesSci Adv
Normandeau A   +16 more
europepmc   +1 more source

Sex‐Specific Genetic Architecture of ALS: Evidence of a Female Protective Effect?

open access: yesAnnals of Neurology, EarlyView.
Background Amyotrophic lateral sclerosis (ALS) shows sex differences in incidence and age of onset, yet the underlying biological mechanisms remain poorly understood. Methods We investigated sex‐specific genetic architecture in an Italian ALS cohort with whole‐genome sequencing (1,333 ALS cases, 755 controls).
Maurizio Grassano   +20 more
wiley   +1 more source

Reliability analysis of subsea pipeline system based on fuzzy polymorphic bayesian network. [PDF]

open access: yesSci Rep
Liu C   +9 more
europepmc   +1 more source

Centrifuge tests on the deformation law of pipelines crossing slopes with different water contents. [PDF]

open access: yesSci Rep
Jia H   +9 more
europepmc   +1 more source

Multimodal Wearable Monitoring of Exercise in Isolated, Confined, and Extreme Environments: A Standardized Method. [PDF]

open access: yesMethods Protoc
Hejda J   +9 more
europepmc   +1 more source

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