Results 71 to 80 of about 97,145 (309)
Meteorological ApplicationsAccurate predictions of streamflow and flood events are contingent upon the availability of reliable hydrometeorological data. In regions characterized by scarcity of ground‐based hydrometeorological observations, satellite and reanalysis data assume ...
Josephine Thywill Katsekpor +3 more
doaj +1 more source
Global mean frequency increases of daily and sub-daily heavy precipitation in ERA5
Environmental Research Letters, 2021 Changes in heavy precipitation frequency can be viewed as a change in the event return period, a common metric of risk. Compared with intensity, frequency changes are less well-studied and past work has largely been constrained to analysis of well ...
Maria J Chinita +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source
, 2015 This file contains all data, python, and R scripts needed to replicate our analysis of synonymous substitutions in a long-term evolution experiment at 40,000 ...
Stéphane Cruveiller (10219) +5 more
core +1 more source
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +1 more source
Semantic Reanalysis and Language Change
, 2011 Reanalysis is a well-known process of language change in morphosyntax. However, the semantic composition of sentence meanings can also undergo reanalysis and lead to meaning changes for parts of the sentence.
Eckardt, Regine, Regine Eckardt
core +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
PERUN/Reanalysis - the new Central Europe regional reanalysis
, 2022 The contribution describes atmospheric reanalyses in general, their concept and role in atmospheric and climate research. The novel PERUN/Reanalysis regional reanalysis based on the ALADIN numerical model opreating at the Czech National Institute of ...
Pokorná, Lucie
core
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
A reanalysis of a reanalysis! The path to enlightenment [PDF]
Fertility and Sterility, 2002 Hunault, Claudine C. +4 more
openaire +2 more sources