Clin Genet. 2025 Nov;108(5):612-614. doi: 10.1111/cge.70024. Epub 2025 Jul 15. ABSTRACT We report a 5-month-old girl with a novel PHACTR1 variant, presenting with infantile spasms …
Surg Infect (Larchmt). 2025 Oct 7. doi: 10.1177/10962964251385387. Online ahead of print. ABSTRACT Background: Ventricular reservoir infections and cerebrospinal fluid (CSF) shunt infections are diagnosed …
J Clin Endocrinol Metab. 2025 Oct 7:dgaf549. doi: 10.1210/clinem/dgaf549. Online ahead of print. ABSTRACT CONTEXT: Cardiovascular health of the transgender population receiving hormone therapy (HT) …
Minerva Med. 2025 Oct 7. doi: 10.23736/S0026-4806.25.09808-8. Online ahead of print. ABSTRACT Antimicrobial resistance (AMR) remains a critical global health concern, largely driven by inappropriate …
Indian J Orthop. 2025 Jun 20;59(9):1420-1426. doi: 10.1007/s43465-025-01443-0. eCollection 2025 Sep. ABSTRACT BACKGROUND: LIMB-Q Kids is a new patient-reported outcome measure (PROM) for children with …
J Transl Med. 2025 Oct 6;23(1):1054. doi: 10.1186/s12967-025-07032-x. ABSTRACT BACKGROUND: The ATP synthase F1 subunit α (ATP5F1A) gene encodes a critical structural subunit of mitochondrial …
BMC Public Health. 2025 Oct 6;25(1):3354. doi: 10.1186/s12889-025-24495-1. NO ABSTRACT PMID:41053735 | DOI:10.1186/s12889-025-24495-1
BMC Pediatr. 2025 Oct 6;25(1):770. doi: 10.1186/s12887-025-06103-8. NO ABSTRACT PMID:41053746 | DOI:10.1186/s12887-025-06103-8
BMC Pediatr. 2025 Oct 6;25(1):774. doi: 10.1186/s12887-025-06169-4. NO ABSTRACT PMID:41053712 | DOI:10.1186/s12887-025-06169-4
BMC Med Genomics. 2025 Oct 6;18(1):149. doi: 10.1186/s12920-025-02226-0. ABSTRACT BACKGROUND: Wiedemann-Steiner syndrome (WSS) is a genetic malformation syndrome caused by abnormalities in KMT2A. It is …
