An accurate diagnosis is an integral component of patient care for children with rare genetic
disease. Recent advances in sequencing, in particular whole‐exome sequencing ( WES ), …

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 …

The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing
the scope of practice for clinical geneticists. Many large institutions are making a significant …

… If I am not mistaken, we shall find at the present day a precisely similar result of far different
causes. We shall find, partly as a result of our currency systems, nations, governments, …

… There is not and there never has been, so far as I am aware, a law compelling a debtor to
pay his debt in gold or silver, or in any other commodity; nor so far as I know, has there ever …

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus
(MPPH) syndromes are sporadic overgrowth disorders associated …

The mammalian cerebral cortex is characterized by complex patterns of anatomical and
functional areas that differ markedly between species, but the molecular basis for this functional …

Nager syndrome, first described more than 60 years ago, is the archetype of a class of
disorders called the acrofacial dysostoses, which are characterized by craniofacial and limb …

Background The senses of touch and proprioception evoke a range of perceptions and rely
on the ability to detect and transduce mechanical force. The molecular and neural …

Deficiency in BRCA-dependent DNA interstrand crosslink (ICL) repair is intimately connected
to breast cancer susceptibility and to the rare developmental syndrome Fanconi anemia. …