Abstract Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder
characterized by a specific congenital malformation of the hindbrain and a broad spectrum�…

New developments in the treatment and management of phenylketonuria (PKU) as well as
advances in molecular testing have emerged since the National Institutes of Health 2000�…

Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a relatively
common disorder of neural crest migration. It has a strong genetic basis, although simple�…

By exploiting a rich firm level data-base, this paper presents novel empirical evidence on the
effect of process and product innovations on productivity, as well as on the role played by�…

We describe the public ESO near-IR variability survey (VVV) scanning the Milky Way bulge
and an adjacent section of the mid-plane where star formation activity is high. The survey�…

Human mitochondrial transcription factor 1 (mtTF1) has been sequenced and is a nucleus-
encoded DNA binding protein of 204 amino acids (24,400 daltons). Expression of human�…

Neurotoxic amyloid β peptide (Aβ) accumulates in the brains of individuals with Alzheimer
disease (AD). The APOE4 allele is a major risk factor for sporadic AD and has been�…

Sex chromosomes are primary determinants of sexual dimorphism in many organisms.
These chromosomes are thought to arise via the divergence of an ancestral autosome pair�…

The molecular basis of nephronophthisis, the most frequent genetic cause of renal failure in
children and young adults, and its association with retinal degeneration and cerebellar�…

Joubert syndrome (JS) is an autosomal recessive multisystem disease characterized by
cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (the" molar tooth�…