Results 141 to 150 of about 44,988 (225)
The identification of a patient carrying a novel homozygous p.(Gln206Ter) POC5 variant revealed a metabolic phenotype associated with POC5 deficiency. POC5 deficiency disrupts centriolar architecture and ciliary organization, leading to impaired proliferation, premature cellular senescence, and reduced insulin signaling.
Valeria Pistorio +10 more
wiley +1 more source
Fatal Hemorrhagic Rupture of a Cystic Hepatic Hemangioma in a 27-Week Preterm Neonate. [PDF]
El Athmani O +4 more
europepmc +1 more source
Multimodality Imaging of a Right Atrial Myxoma Mimicking Pancreatitis. [PDF]
Cham SLS +4 more
europepmc +1 more source
Early imaging differentiation of children with acute hematologic malignancies that present in pancytopenia: a retrospective study. [PDF]
Ma J +8 more
europepmc +1 more source
Glicogenose Tipo I (Doença de Von Gierke): Relato de Dois Casos com Grave Dislipidemia
Julia Maria Avelino Ballavenuto +2 more
doaj +1 more source
Diffuse Infantile Hepatic Hemangiomatosis: A Rare Cause of Consumptive Hypothyroidism. [PDF]
Larbi Ouassou K +4 more
europepmc +1 more source
Case report of successful management of open abdomen due to abdominal compartment syndrome in a patient with neuroblastoma stage 4S using the Fasciotens Pediatric® System. [PDF]
Diez S +5 more
europepmc +1 more source
Chronic Ketamine Toxicity Involving both Urinary and Hepatobiliary Systems. [PDF]
Cotza A, Meylaerts L.
europepmc +1 more source

