Results 161 to 170 of about 2,807,341 (362)

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi   +7 more
wiley   +1 more source

Infant health and longevity: Evidence from a historical trial in Sweden [PDF]

open access: yes, 2015
This paper investigates the potential of an infant intervention to improve life expectancy, contributing to emerging interest in the early life origins of chronic disease.
Bhalotra, Sonia R.   +2 more
core   +2 more sources

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart   +12 more
wiley   +1 more source

Panel Discussion: The Nursing Role [PDF]

open access: yes, 1979
I will talk about setting up a program for nursing visits to SIDS parents and its importance. The first thing the parents need to know is what their baby died of; they need to know facts about SIDS, how to relieve their guilt reactions, and a set of ...
Barr, Ann
core   +1 more source

3‐Year Outcomes of Temperature‐Controlled Radiofrequency Ablation of the Posterior Nasal Nerve in Patients With Chronic Rhinitis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Temperature‐controlled radiofrequency (TCRF) ablation of the posterior nasal nerve has been shown to improve chronic rhinitis (CR) symptoms and quality of life (QoL). This study assesses the durability of TCRF's effectiveness and safety 3 years post‐procedure in patients with perennial allergic CR and nonallergic CR.
J. Pablo Stolovitzky   +8 more
wiley   +1 more source

A companion to the preclinical common data elements and case report forms for neuropathology studies in epilepsy research. A report of the TASK3 WG2 Neuropathology Working Group of the ILAE/AES Joint Translational Task Force

open access: yesEpilepsia Open, EarlyView., 2022
Abstract The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force initiated the TASK3 working group to create common data elements (CDEs) for various aspects of preclinical epilepsy research studies, which could help improve the standardization of experimental designs.
Eleonora Aronica   +6 more
wiley   +1 more source

Mortality causes and trends associated with giant cell arteritis: analysis of the French national death certificate database (1980–2011)

open access: yesRheumatology, 2018
A. Aouba   +7 more
semanticscholar   +1 more source

Data brief from the National Violent Death Reporting System [PDF]

open access: yes
This data brief summarizes suicide deaths reported in the NVDRS due to poisoning by alcohol and/or other drugs (illicit, prescription, and over-thecounter) ingestion as indicated by the cause of death on the death certificate.
National Center for Injury Prevention and Control (U.S.) Division of Violence Prevention.
core  

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