Results 221 to 230 of about 37,774 (292)
Summary Lack of response or delayed response to therapy are major challenges in the use of DNA‐hypomethylating agents (HMA) in patients with acute myeloid leukaemia (AML). Fetal haemoglobin (HbF) is a potential biomarker for response to HMA treatment but has only been studied in small single‐centre studies.
Julia Stomper +27 more
wiley +1 more source
Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3-q25). [PDF]
Zhang T +8 more
europepmc +1 more source
Whole-exome sequencing increases variant detection compared to karyotyping and CMA in an unselected FGR cohort. [PDF]
Liu J +6 more
europepmc +1 more source
Prenatal and Postnatal Identification of Phelan-McDermid Syndrome in a Tertiary Referral Center: A 15-Case Series and Literature Review. [PDF]
Xue H +7 more
europepmc +1 more source
Summary Comprehensive genome and transcriptome profiling can inform the diagnosis, prognosis and management of relapsed/refractory (R/R) solid malignancies, yet its integration into clinical care has lagged despite strong biological rationale. We evaluated the clinical utility of whole genome and transcriptome analysis (WGTA) in 65 patients (37 ...
Kathleen Wee +24 more
wiley +1 more source
A qPCR-based algorithm for the diagnosis of classic and non-classic Turner syndrome. [PDF]
Bose C +5 more
europepmc +1 more source
Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco +14 more
wiley +1 more source
Comprehensive assessment of the genomic stability of human induced pluripotent stem cells for clinical applications. [PDF]
Zhang K +11 more
europepmc +1 more source

