149 天前 - … In summary, this study rst reported two novel variants of the FAT2 gene in a RLS
family, which provided a preliminary theoretical basis for clinical diagnosis and etiology …

153 天前 - … However, inherited hyperpigmented skin disorders comprise a group of entities
with considerable clinical and genetic heterogeneity, making their genetic basis difficult to …

158 天前 - … includes clinical characterization, radiographic pattern recognition, and genetic
testing. … a gap in understanding the genetic and phenotypic characteristics of some of the …

161 天前 - … analyzed 63 patients with CA and compared them with 80 true HFpEF patients and
70 … the diagnosis and diastolic function was characterized according to current guidelines. …

170 天前 - … in depth functional characterization. Patients with KEAP1 VUS also show similarly
poor … to chemoimmunotherapy to patients with known KEAP1 driver mutations, indicating that …

170 天前 - … -derived cancer organoids have been shown to maintain genetic and phenotypic …
molecular characterisation of patient-derived GBM organoid (PGO) models to study treatment …

170 天前 - … We sought to identify novel treatment options for CREBBP-mutated high-risk B-ALL.
CREBBP-mutated isogenic human B-ALL cell lines were genome-engineered to provide a …

170 天前 - … Functionally, we show that overexpression of CBL ex8/9Δ … In this study, we
demonstrate that CBL is mutated in a range of … for high-risk patients with limited therapeutic …

170 天前 - … To better understand underlying genetic mechanisms associated with aggressive
neuroblastoma, our group incorporated patient-relevant loss-of-function mutations into the …

170 天前 - … To identify patterns of mutation and expression of paralog genes in lung cancer,
we have accessed publicly available data sets for both cell line and patient tumor samples. …