Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes +4 more
wiley +1 more source
A cross-sectional study assessing barriers and facilitators to the sustainability of physical activity and nutrition interventions in early childhood education and care settings. [PDF]
Int J Behav Nutr Phys ActImad N +8 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Population‐specific thresholds have not been defined for the levels of adiposity and systemic biomarkers that predict chronic health risks in people with restricted growth conditions. Here, anthropometric measures of adiposity, basal metabolic requirements, and fasted blood samples were obtained from adults with restricted growth (age 41 ± 14 ...
Lucy H. Merrell +7 more
wiley +1 more source
Parental perceptions of an oral health promotion program in early childhood education and care settings: A qualitative study. [PDF]
J Public Health DentHeller LS +8 more
europepmc +1 more source
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet +11 more
wiley +1 more source
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
Enhancing computational thinking in early childhood education through ScratchJr integration. [PDF]
HeliyonKonstantina L, Stamatios P.
europepmc +1 more source
Becoming an Early Childhood Special Education Teacher in an Early Childhood Education Institution
The Journal of Anthropology of Education, 2017 openaire +2 more sources
A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.
Sarah Jurgensmeyer Langas +5 more
wiley +1 more source
A Systematic Review of Research Patterns and Trends in Early Childhood Education Teacher Well-Being from 1993 to 2023: A Trajectory Landscape. [PDF]
Behav Sci (Basel)Li X, Zhang L, Lee JC, Chen J.
europepmc +1 more source