Noonan syndrome (NS) is a mostly dominantly inherited disorder affecting 1: 1000 to 1:
2500 live births. The phenotype varies in severity and can involve multiple organ systems …

Historically, the term “artificial intelligence” dates to 1956 when it was first used in a
conference at Dartmouth College in the US. Since then, the development of artificial …

GH treatment involves nightly subcutaneous injections in attempt to mirror the pituitary's
endogenous GH secretion. GH therapy is expensive, with median costs per child exceeding …

Background Delays in the diagnosis of genetic syndromes are common, particularly in low
and middle-income countries with limited access to genetic screening services. We …

Background Noonan syndrome (NS), an autosomal dominant developmental genetic
disorder, is caused by germline mutations in genes associated with the RAS/mitogen …

Abstract The RAS-RAF-MEK-ERK signaling pathway is vital for different cellular
mechanisms including cell proliferation, differentiation and apoptosis. This importance is …

Williams–Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a
1.5 Mb deletion in 7q11. 23. The phenotype of WBS has been well described in populations …

Up to 40% of rare disorders (RD) present facial dysmorphologies, and visual assessment is
commonly used for clinical diagnosis. Quantitative approaches are more objective, but …

Isolated growth disorders are often monogenic. Specific genetic causes typically have
specific biochemical and/or phenotype characteristics which are diagnostically helpful …

Purpose The interpretation of genetic variants after genome-wide analysis is complex in
heterogeneous disorders such as intellectual disability (ID). We investigate whether …