The delineation of disease entities is complex, yet recent advances in the molecular
characterization of diseases provide opportunities to designate diseases in a biologically valid …

Cardiovascular abnormalities, especially structural congenital heart defects, commonly occur
in malformation syndromes and genetic disorders. Individuals with syndromes comprise a …

We have identified two families with a previously undescribed lethal X-linked disorder of
infancy; the disorder comprises a distinct combination of an aged appearance, craniofacial …

Impacts of human civilization on ecosystems threaten global biodiversity. In a changing
environment, traditional in situ approaches to biodiversity monitoring have made significant steps …

A range of phenotypes including Greig cephalopolysyndactyly and Pallister‐Hall syndromes
(GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the …

During the twenty years before the American Revolution, thirty-seven men acted as paid
agent or lobbyists for the American colonies in England. The most famous among them were …

We describe an X-linked genetic syndrome associated with mutations in TAF1 and
manifesting with global developmental delay, intellectual disability (ID), characteristic facial …

In order to describe the physical characteristics, medical complications, and natural history
of classic 7q11.23 duplication syndrome [hereafter Dup7 (MIM 609757)], reciprocal …

When Mary Steedly went to North Sumatra, Indonesia, she intended to study the curing
practices of Karo Batak spirit mediums, the gurus who keep a community in touch with its …

OBJECTIVE: An association between anterior glottic webs and velocardiofacial syndrome (chromosome
22q11.2 deletion) has previously been noted in a number of case reports. Our …