Objective To review the available evidence on the association between primary short stature
and intellectual and physical dysfunction among children. Methods Systematic searches …

nary L-rhamnose excretion was significantly decreased erythritol,t polyethylene glycol 400,2
mannitol,3 and Page 1 1107 22. Elkins WL. Correlation of graft-versus-host mortality and …

Over 25 cases with variable deletions of 6p have been reported in the literature. There have
been six reports of 6p25-pter deletions, two of which have been cryptic subtelomeric …

Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include
heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic …

… /or mother) were separated by SDS-PAGE, followed by Western blotting using antibodies …
father) were separated by 3 to 12% native PAGE. Proteasome chymotrypsin-like activity was …

… Wheeler received the BS degree in liberal arts, with specializations in sociology and nuclear …
A systems thinker, Wheeler uses this knowledge and his own experience to facilitate …

MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and
transcriptional regulation. Heterozygous variants in MORC2 have been reported in individuals …

Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of
slow skeletal/β‐cardiac myosin heavy chain encoded by the gene MYH 7, as is a common …

Nonallelic homologous recombination (NAHR) can mediate recurrent rearrangements in the
human genome and cause genomic disorders. Smith-Magenis syndrome (SMS) and Potocki…

We have identified 25 cases with what we are calling the partial urorectal septum malformation
(URSM) sequence, which were seen in our institution over the past 27 years. The partial …