Results 181 to 190 of about 1,541,429 (359)

Genetic engineering in conservation [PDF]

open access: yesNature, 2013
Robin S. Waples   +2 more
openaire   +3 more sources

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero   +15 more
wiley   +1 more source

Evolution and conservation genetics of an insular hemiparasitic plant lineage at the limit of survival: the case of Thesium sect. Kunkeliella in the Canary Islands. [PDF]

open access: yesAm J Bot, 2022
Rodríguez-Rodríguez P   +7 more
europepmc   +1 more source

The Diagnostic Value of Visual Evoked Potentials in Chronic Disorders of Consciousness

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In chronic disorders of consciousness (DOCs), the distinction between vegetative state/unresponsive wakefulness syndrome (VS/UWS) and minimally conscious state (MCS) is as crucial as it is challenging. Evoked potentials (EPs) and event‐related potentials (ERPs) are helpful, but some limitations prevent their consistent use in the ...
Letizia Clementi   +14 more
wiley   +1 more source

Editorial: Population genetics and conservation of aquatic species

open access: yesFrontiers in Genetics, 2023
Shaokui Yi   +3 more
doaj   +1 more source

Introduction to conservation genetics

open access: green, 2002
Richard Frankham   +2 more
openalex   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach   +11 more
wiley   +1 more source

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