The application of epigenetics to the study of behavioral and socio-emotional development
in humans has revealed that DNA methylation could be a potential marker of adversity …

We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and
variable facial and digital dysmorphisms. We describe nine affected individuals, including …

Molecular techniques led to the discovery that several chromosome rearrangements
interpreted as terminal duplications were in fact inverted duplications contiguous to terminal …

The terminal 22q13. 3 deletion syndrome is characterized by severe expressive-language
delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial …

We recently showed that mutations in the CNGA3 gene encoding the α-subunit of the cone
photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia …

The olfactory receptor (OR)–gene superfamily is the largest in the mammalian genome.
Several of the human OR genes appear in clusters with⩾ 10 members located on almost all …

Natural killer cells mediate spontaneously secretory/necrotic killing against rare leukemia
cell lines and a nonsecretory/apoptotic killing against a large variety of tumor cell lines. The …

In this study, we used deletions at 22q13, which represent a substantial source of human
pathology (Phelan/McDermid syndrome), as a model for investigating the molecular …

The COVID-19 pandemic is a global traumatic experience for citizens, especially during
sensitive time windows of heightened plasticity such as pregnancy and neonatal life …

Introduction: The 22q13. 3 deletion syndrome (MIM 606232) is characterised by neonatal
hypotonia, normal to accelerated growth, absent to severely delayed speech, global …