Results 211 to 220 of about 76,183 (298)

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice   +10 more
wiley   +1 more source

Defining Reference Intervals for Complete Blood Count and Micronutrient Parameters in Urban Bangladeshi Population. [PDF]

open access: yesBiomolecules
Haq MA   +8 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican 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

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington   +2 more
wiley   +1 more source

Retroreflector in Space (RIS)

open access: yesGeocarto International, 1997
openaire   +1 more source

Adenosine monophosphate–activated protein kinase activation is associated with suppression of NLRP3 inflammasome–mediated neuroinflammation in a weight‐drop model of traumatic brain injury in Sprague–Dawley rats

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the study's schematic model. Adenosine monophosphate–activated protein kinase (AMPK) activators exhibited neuroprotection in the weight‐drop model of traumatic brain injury by improving cognition and regulating oxidative stress, microglial activation, and nucleotide‐binding oligomerization domain, leucine‐rich repeat,
Triveni Kodi   +3 more
wiley   +1 more source

Applying the 2024-revised McDonald criteria for multiple sclerosis using conventional diagnostic tools: a single-centre prospective cohort study in Germany. [PDF]

open access: yesEClinicalMedicine
Konen FF   +25 more
europepmc   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

open access: yesAnnals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato   +7 more
wiley   +1 more source

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