Am J Intellect Dev Disabil. 2025 Sep 1;130(5):362-379. doi: 10.1352/1944-7558-130.5.362. ABSTRACT Phelan-McDermid syndrome (PMS) is a genetic condition associated with profound neurodevelopmental disabilities. This study …
Am J Intellect Dev Disabil. 2025 Sep 1;130(5):414-437. doi: 10.1352/1944-7558-130.5.414. ABSTRACT The Developmental Synaptopathies Consortium is a multisite natural history network studying rare, neurogenetic syndromes …
Am J Intellect Dev Disabil. 2025 Sep 1;130(5):380-394. doi: 10.1352/1944-7558-130.5.380. ABSTRACT Phelan-McDermid syndrome (PMS), caused by SHANK3 haploinsufficiency, lacks natural history data. We report the …
Pediatr Neurol. 2025 Aug 6;172:21-27. doi: 10.1016/j.pediatrneurol.2025.07.019. Online ahead of print. ABSTRACT BACKGROUND: Perinatal stroke is a leading cause of cerebral palsy and lifelong neurological …
BMC Pregnancy Childbirth. 2025 Aug 26;25(1):890. doi: 10.1186/s12884-025-08059-0. ABSTRACT BACKGROUND: Hypertensive disorders of pregnancy (HDP) are major contributors to maternal and neonatal mortality, particularly in …
Stem Cell Res Ther. 2025 Aug 26;16(1):451. doi: 10.1186/s13287-025-04579-w. NO ABSTRACT PMID:40859329 | DOI:10.1186/s13287-025-04579-w
BMC Med. 2025 Aug 26;23(1):496. doi: 10.1186/s12916-025-04332-3. ABSTRACT BACKGROUND: Antiretroviral therapy (ART) has dramatically reduced perinatal HIV transmission, leading to a growing population of children …
BMC Public Health. 2025 Aug 26;25(1):2922. doi: 10.1186/s12889-025-24230-w. ABSTRACT INTRODUCTION: Childhood obesity and sedentary lifestyles are growing public health concerns, with familial practices playing a …
Diagn Pathol. 2025 Aug 26;20(1):99. doi: 10.1186/s13000-025-01706-2. ABSTRACT BACKGROUND: Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) is an autosomal dominant tumor predisposition syndrome with …
Orphanet J Rare Dis. 2025 Aug 26;20(1):456. doi: 10.1186/s13023-025-03987-8. ABSTRACT BACKGROUND: Vanishing White matter (VWM) is one of the more prevalent leukodystrophies, caused by biallelic …
