paediatrics
paediatrics

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

Genome Med. 2024 Apr 3;16(1):53. doi: 10.1186/s13073-024-01312-9. ABSTRACT BACKGROUND: NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants …

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population

Hum Genomics. 2024 Apr 3;18(1):35. doi: 10.1186/s40246-024-00598-5. ABSTRACT BACKGROUND: To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at …

Clinical characteristics analysis of pediatric spinal cord injury without radiological abnormality in China: a retrospective study

BMC Pediatr. 2024 Apr 3;24(1):236. doi: 10.1186/s12887-024-04716-z. ABSTRACT PURPOSE: This study aims to analyze the clinical characteristics of Chinese children with spinal cord injury (SCI) …

Perception, practice, and barriers toward research among pediatric undergraduates: a cross-sectional questionnaire-based survey

BMC Med Educ. 2024 Apr 3;24(1):364. doi: 10.1186/s12909-024-05361-x. ABSTRACT BACKGROUND: Scientific research activities are crucial for the development of clinician-scientists. However, few people pay attention …