Mol Biol Rep. 2024 Jun 1;51(1):714. doi: 10.1007/s11033-024-09560-z. ABSTRACT BACKGROUND: NOTCH3 variants are known to be linked to cerebral autosomal dominant arteriopathy with subcortical infarcts …
Nutr Clin Pract. 2024 Jun 1. doi: 10.1002/ncp.11161. Online ahead of print. ABSTRACT BACKGROUND: Swaddling is recommended for preterm infants during feeding. Swaddling preterm infants …
Eur J Hum Genet. 2024 Jun 1. doi: 10.1038/s41431-024-01642-7. Online ahead of print. ABSTRACT Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, …
Eur J Hum Genet. 2024 Jun 1. doi: 10.1038/s41431-024-01644-5. Online ahead of print. ABSTRACT STAC3 disorder, or Native American myopathy, is characterised by congenital myopathy, …
Eur J Hum Genet. 2024 Jun 1. doi: 10.1038/s41431-024-01643-6. Online ahead of print. ABSTRACT Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality …
Pediatr Res. 2024 Jun 1. doi: 10.1038/s41390-024-03290-5. Online ahead of print. ABSTRACT BACKGROUND: Suicide is a leading cause of death in children. The COVID-19 pandemic …
Pediatr Surg Int. 2024 Jun 1;40(1):147. doi: 10.1007/s00383-024-05733-w. ABSTRACT PURPOSE: The objective was to compare the immediate effects of pharmacological versus physiotherapy intervention versus a …
Eur J Hum Genet. 2024 Jun 1. doi: 10.1038/s41431-024-01623-w. Online ahead of print. ABSTRACT BAP1-Tumor Predisposition Syndrome (TPDS) is caused by germline variants in BAP1 …
J Hum Genet. 2024 Jun 1. doi: 10.1038/s10038-024-01258-1. Online ahead of print. ABSTRACT INTRODUCTION: Kabuki syndrome (KS) is a rare disorder characterized by typical facial …
J Nephrol. 2024 Jun 1. doi: 10.1007/s40620-024-01961-4. Online ahead of print. NO ABSTRACT PMID:38824229 | DOI:10.1007/s40620-024-01961-4
