Results 161 to 170 of about 280,708 (291)

Extended Lombardy's Neonatal Screening Dataset. [PDF]

Sci Data
Lopiano G, Alberti L, Cereda C, Cabitza F.   +3 more
europepmc   +1 more source

Neonatal screening part 2: neonatal screening in Canada.

Canadian family physician Medecin de famille canadien, 2013
Neonatal screening is a widely accepted, cost-effective method for early detection of various inborn errors of metabolism. This series of three articles examines different aspects of neonatal screening. In the first article, the author discussed general principles of screening and its function in the spectrum of diagnostic techniques for genetic ...
openaire   +1 more source

Gel‐Amin for Improving Extracellular Recordings of Cardiomyocytes in a 3D Microphysiological System

Advanced Electronic Materials, EarlyView.
This work combines a conductive collagen‐based hydrogel with a laser‐cut and assembly technique to fabricate microphysiological systems that improve extracellular recordings of cardiomyocytes in 3D on microelectrode arrays. The inclusion of choline acrylate into GelMA imparts a higher electrical conductivity and improves the signal‐to‐noise ratio of on‐
Dominic Pizzarella, Katelyn Neuman, Nolan Burson, Abigail N. Koppes, Ryan A. Koppes   +4 more
wiley   +1 more source

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience. [PDF]

Int J Neonatal Screen
Jia X, Xie T, Jiang X, Tang F, Tan M, Chen Q, Liu S, Huang Y, Tao L.   +8 more
europepmc   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Cord Blood-Based Neonatal Screening for Hemoglobinopathies in Northern Tunisia. [PDF]

Int J Neonatal Screen
Ouragini H, Halim NB, Zitouni S, Chaouachi D, Boudrigua I, Saidani N, Kraiem I, Ayachi A, Abbes S, Mourali M, Menif S.   +10 more
europepmc   +1 more source

Neonatal Screening for Cystic Fibrosis in Hungary-First-Year Experiences. [PDF]

Int J Neonatal Screen, 2023
Xue A, Lénárt I, Kincs J, Szabó H, Párniczky A, Balogh I, Deák A, Monostori PB, Hegedűs K, Szabó AJ, Szatmári I.   +10 more
europepmc   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Developing and validating a neonatal screening tool for congenital anomalies to be used in low- and middle-income country settings. [PDF]

BMJ Glob Health
Gebreselassie HA, Lakhoo K.
europepmc   +1 more source