Results 51 to 60 of about 1,448,973 (364)
RNA sequencing of archived neonatal dried blood spots
Molecular Genetics and Metabolism Reports, 2017 Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °
Jonas Bybjerg-Grauholm +8 more
doaj +1 more source
Implementing a newborn hearing screening programme : a feasibility study : a thesis presented in partial fulfillment of the requirements for the degree of Master of Arts at Massey University [PDF]
, 2004 Aim. To determine the feasibility of implementing a universal newborn hearing screening programme at National Women's Hospital (NWH), Auckland, New Zealand. Method. This feasibility study evaluates the potential for success of a Universal Newborn Hearing
Anderson-Hawke, Karen
core
A systematic review and meta-analyses of pregnancy and fetal outcomes in women with multiple sclerosis: a contribution from the IMI2 ConcePTION project. [PDF]
, 2020 Neurologists managing women with Multiple Sclerosis (MS) need information about the safety of disease modifying drugs (DMDs) during pregnancy. However, this knowledge is limited.
A Haghikia +20 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick +14 more
wiley +1 more source
Respiratory Research, 2019 Background C-X-C chemokine receptor type 4 (CXCR4) may be involved in the development of pulmonary arterial hypertension (PAH). CXCR4 inhibitor AMD3100 was described to have a positive effect on the prevention of pulmonary arterial muscularization in PAH
Tingting Zhang +7 more
doaj +1 more source
Risk of low birth weight near EUROHAZCON hazardous waste landfill sites in England.
, 2007 Few studies have investigated the occurrence of both low birth weight (LBW) and congenital anomalies in populations living near hazardous waste landfill sites.
Dolk, Helen +2 more
core +1 more source
Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller +6 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu +10 more
wiley +1 more source
BMC PediatricsBackground Anorectal malformations and Hirschsprung’s disease are congenital conditions impacting the digestive system, with a particularly uncommon co-occurrence, estimated at 2–3% of all ARM cases.
Mohamed Abdelmalak +7 more
doaj +1 more source
TRIM4 is associated with neural tube defects based on genome-wide DNA methylation analysis
Clinical Epigenetics, 2019 Background Neural tube defects (NTDs) are complex abnormalities associated with gene-environment interactions. The underlying cause has not been determined. Methods Spinal cord tissues from cases with NTDs and healthy controls were collected. Methylation
Henan Zhang +16 more
doaj +1 more source