… Another gene, synaptosomal-associated protein 29 kDa (SNAP29), encodes a soluble
SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) protein that is …

The acronym CHARGE refers to a syndrome of unknown cause. Here we report on 47 CHARGE
patients evaluated for the frequency of major anomalies, namely coloboma (79%), heart …

We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical
region of chromosome 22q11. Twenty-eight percent of the cases where parents had been …

We argue that the processes underlying institutionalization have not been investigated
adequately and that discourse analysis provides a coherent framework for such investigation. …

Deciding when to return to sport after injury is complex and multifactorial—an exercise in
risk management. Return to sport decisions are made every day by clinicians, athletes and …

… spores is assumed to result from oxygen atoms, while the relatively strong UV emission
stems from excited NO(B) molecules, formed in the afterglow as a result of collisions between N …

… Wortham’s approach to analyzing how identities are stabilized or objectified across events
is further fleshed out in a case concerning “Philip,” who after 2 months of interaction in a new …

A12-year-old boy currently is followed by multiple subspecialists for problems caused by the
chromosome 22q11. 2 deletion syndrome (22q11DS)(Figure). He was born via …

The carboxypeptidase ACE2 is a homologue of angiotensin-converting enzyme (ACE). To
clarify the physiological roles of ACE2, we generated mice with targeted disruption of the …

Neuroblastoma (NB) is a frequent pediatric tumor for which recurrent somatic rearrangements
are known. Germline mutations of predisposing gene(s) are suspected on the basis of rare …