Results 211 to 220 of about 230,705 (317)
Heart rate trends in healthy newborns ≥35+0 weeks' gestation after caesarean delivery with extrauterine placental transfusion and physiology-based cord clamping: a Norwegian observational study (INTACT-3). [PDF]
Saether E +6 more
europepmc +1 more source
A Prospective Multi-Center Newborn Screening for Thalassemia by Comprehensive Analysis of Thalassemia Alleles (CATSA) Based on Single Molecule Real-Time Sequencing in Guangxi, China. [PDF]
Xia A +12 more
europepmc +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Evaluating the Two-Step TSH Screening Protocol for Congenital Hypothyroidism: Prevalence and Diagnostic Accuracy in Ninh Binh, Vietnam. [PDF]
Viet NH +5 more
europepmc +1 more source
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Antenatal Opioid Exposure and Cerebral Cortical Maturation in Newborns.
Wu Y +14 more
europepmc +1 more source

