Clinical and molecular findings of the six patients with Rubinstein

Clinical characteristics of present cohort of patients with

Schematic representation of the three main molecular mechanisms of

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Molecular basis for Nse5-6 mediated regulation of Smc5/6 functions

CRISPR-Cas9: A Preclinical and Clinical Perspective for the Treatment of Human Diseases: Molecular Therapy

An investigational oral plasma kallikrein inhibitor for on-demand treatment of hereditary angioedema: a two-part, randomised, double-blind, placebo-controlled, crossover phase 2 trial - The Lancet

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

PDF) Disrupting galectin-1 interactions with N-glycans suppresses hypoxia-driven angiogenesis and tumorigenesis in Kaposi's sarcoma

Tumor mutation burden in the prognosis and response of lung cancer patients to immune-checkpoint inhibition therapies - ScienceDirect

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder

A systematic review of interleukin-2-based immunotherapies in clinical trials for cancer and autoimmune diseases - eBioMedicine

Sacituzumab Govitecan-hziy in Refractory Metastatic Triple-Negative Breast Cancer