Results 151 to 160 of about 566,464 (345)
CYST OF THE RIGHT SUPRARENAL CAPSULE REMOVED BY OPERATION [PDF]
H. A. Ballance
openalex +1 more source
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach+11 more
wiley +1 more source
The aim of the study. To study the features of the location of cystic formations in the maxillary sinus based on CT scans and to determine their relationship with the pathology of the upper jaw teeth. Materials and methods.
Volodymyr O. Shkorbotun+2 more
doaj +1 more source
UNILOCULAR OVARIAN CYST, WEIGHING NINETY-FIVE POUNDS, SUCCESSFULLY REMOVED. [PDF]
GEO. E. RANNEY
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ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang+11 more
wiley +1 more source
CONGENITAL CYSTIC KIDNEY WITH LOCAL DIFFUSE PERITONITIS: SURGICAL DESTRUCTION OF PART OF KIDNEY: RECOVERY [PDF]
John D. Malcolm
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ABSTRACT Objective The Apolipoprotein (APOE) ε4 allele is the strongest genetic risk factor for late‐onset Alzheimer's disease (AD); however, many ε4 carriers remain cognitively intact into old age. Leveraging plasma neuron‐derived extracellular vesicles (NDEVs), we sought to identify biomarkers of cognitive resilience and their interplay with APOE ...
Apostolos Manolopoulos+17 more
wiley +1 more source
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó+17 more
wiley +1 more source
Experimental research on the development of Ceratium hirundinella O.F.Muller [Translation from: Z.Bot. 14, 337-371, 1922] [PDF]
The most important aim of this study lay in filling in the great gap in our knowledge of the processes of germination in the Ceratium cyst and the early developmental stages in the standing stock of Ceratium hirundinella.
Huber, G., Nipkow, F.
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