The analysis of individuals with telomere defects may shed light on the delicate interplay of
factors controlling genome stability, premature aging, and cancer. We herein describe two …

Prenatal ultrasound (US) abnormalities often pose a clinical dilemma and necessitate
facilitated investigations in the search of diagnosis. The strategy of pursuing fetal whole-exome …

Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental
disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES …

Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands
of different, severe causal alleles that vary among populations. The Israeli Jewish …

Background This study summarizes the results of prenatal diagnosis due to a history of de
novo mutation in a previous pregnancy, in a tertiary center in Israel, over a 10‐year period. …

Acute myeloid leukemia (AML) and myeloid neoplasms develop through acquisition of
somatic mutations that confer mutation-specific fitness advantages to hematopoietic stem and …

MicroRNAs are important post-transcriptional regulators of gene expression in all eukaryotic
cells and play essential roles, ie in development, signal transduction or growth control by …

Thoroughly researched, this study highlights the historical scholarship that is one of the lasting
legacies of interwar Polish Jewry and analyses its political and social context. As Jewish …

Immunotherapies have emerged to treat diseases by selectively modulating a patient's
immune response. Although the roles of T and B cells in adaptive immunity have been well …

… The direct interrogation of whole proteins and protein complexes from the venom of
Ophiophagus hannah (king cobra) provides a sharply clarified view of toxin sequence variation, …