Results 91 to 100 of about 4,269,423 (255)

Optical Genome Mapping for Chromosomal Aberrations Detection—False-Negative Results and Contributing Factors

open access: yesDiagnostics
Optical genome mapping (OGM) has been known as an all-in-one technology for chromosomal aberration detection. However, there are also aberrations beyond the detection range of OGM.
Yiyun Xu   +12 more
doaj   +1 more source

A multicenter study of fetal chromosomal abnormalities in Chinese women of advanced maternal age

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2016
Objective: This study aimed to determine the rates of different fetal chromosomal abnormalities among women of advanced maternal age in China and to discuss the possible misdiagnosis risks of newer molecular techniques, for selection of appropriate ...
Yuning Zhu   +13 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Technology Rocks the Cradle (1986)

open access: yes, 1986
The panelists discuss medical, ethical and moral dilemmas which various scientific advances in prenatal care have brought about.
Producer: Seminars on Medica & Society
core  

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

To What Extent Do Australian Government Metrics Align With Indigenous and Non‐Indigenous Conceptualisations of Wellbeing? A Scoping Review of Wellbeing Frameworks

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Indigenous wellbeing theories offer potential to better measure social and cultural determinants. This scoping review aimed to identify the types of metrics used by the Australian government to assess wellbeing and evaluate the alignment of current frameworks against Indigenous and non‐Indigenous conceptualisations of wellbeing.
Sophie Wright‐Pedersen   +5 more
wiley   +1 more source

Molecular epidemiology and hematological thresholds for αβ-thalassemia: a retrospective cohort study in the Huizhou region of southern China

open access: yesHematology
Objectives To investigate the prevalence, hematological characteristics and optimal cutoff values for mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) in carriers with combined α- and β-thalassemia (αβ-thalassemia) in the Huizhou ...
Dina Chen   +7 more
doaj   +1 more source

Re-examining the Effects of Medicaid Expansions for Pregnant Women [PDF]

open access: yes
This paper analyzes the effect of Medicaid eligibility expansions on the health insurance coverage of women giving birth and on the use of prenatal care and infant health, controlling for year and state effects and state-specific trends that may be ...
Kosali I. Simon   +3 more
core  

Expanded characterization of the valproic acid zebrafish larval model of autism spectrum disorder: Insights into dysregulation in the gut

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Meticulous calculation of zebrafish‐equivalent therapeutic valproic acid (VPA) dosage maximized the translational value of the data. Hyposerotonergic tone underpinned an anxiety‐like outcome as a core symptom of autism spectrum disorder (ASD). Compartment‐specific dopaminergic and serotonergic dysregulation in the brain versus gut provided mechanistic ...
Lesha Pretorius   +3 more
wiley   +1 more source

How to Improve Prenatal Care in Prisons [PDF]

open access: yes, 2022
As understanding of health advances, the importance of prenatal care becomes clearer. Prenatal care can improve maternal and infant mortality and have a long-lasting impact on the infant.
Fischer, Amber
core  

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