Results 51 to 60 of about 1,899,712 (390)
Image to Fit the Clinical Picture: Point-of-care Ultrasound Assessment of Ebstein’s Anomaly in Peru [PDF]
, 2020 Ebstein’s anomaly is a congenital heart defect that when left untreated can lead to unique physical exam and ultrasound findings. This case describes a patient who presented with dyspnea and was found to have cyanosis, clubbing, and dilation of right ...
Dreyfuss, Andrea +2 more
core
Diffusion imaging and tractography of congenital brain malformations. [PDF]
, 2010 Diffusion imaging is an MRI modality that measures the microscopic molecular motion of water in order to investigate white matter microstructure.
Barkovich, A James +2 more
core +3 more sources
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Science, 2015 Putting both heart and brain at risk For reasons that are unclear, newborns with congenital heart disease (CHD) have a high risk of neurodevelopmental disabilities. Homsy et al.
Jason G. Homsy +40 more
semanticscholar +1 more source
A working model for cytoplasmic assembly of H/ACA snoRNPs
FEBS Letters, EarlyView.Dyskerin is the component of nuclear H/ACA ribonucleoproteins (RNPs) endowed with pseudouridine synthase catalytic activity. Two isoforms of human dyskerin have been characterized: the abundant Iso1, mainly nuclear, and the shorter Iso3, mainly cytoplasmic but occasionally imported into nuclei.
Alberto Angrisani, Maria Furia
wiley +1 more source
Progressive familial intrahepatic cholestasis type 4: a case report
Journal of Medical Case ReportsBackground Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver failure ...
Mohamed Abdelmalak Abokandil +6 more
doaj +1 more source
Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]
, 2005 This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M. +2 more
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, 2005 OBJECTIVE: To determine the association between congenital toxoplasmosis and preterm birth, low birthweight and small for gestational age birth. DESIGN: Multicentre prospective cohort study.
Ancelle T +18 more
core +1 more source
Valganciclovir for symptomatic congenital cytomegalovirus disease.
New England Journal of Medicine, 2015 BACKGROUND The treatment of symptomatic congenital cytomegalovirus (CMV) disease with intravenous ganciclovir for 6 weeks has been shown to improve audiologic outcomes at 6 months, but the benefits wane over time.
D. Kimberlin +43 more
semanticscholar +1 more source
The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells
FEBS Open Bio, EarlyView.We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel +8 more
wiley +1 more source
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +3 more sources