Awareness Month, which seeks to raise recognition and push for research of this rare genomic imprinting disorder. PWS is estimated to affect about one in 20 000 individuals1 yet, until now, people ...

A Swansea pediatrician hopes his decade of content creation continues to inspire millions of viewers. Meet the TikTok doc.

A Japanese research team led by Kyushu University Prof. Hiroyuki Sasaki said it has discovered a gene that determines the ...

Researchers have identified a promising strategy to improve memory and brain cell function in models of 22q11.2 Deletion ...

The initiative is a collaboration between several local entities, including Golisano Children's Hospital, the Strong Center ...

Anna was born with a rare chromosome deletion. She has low muscle tone, does not speak and is hearing impaired. "She only sees one dimension, and so when things move on her, she gets very nervous ...

Genetic testing for hereditary cancer unexpectedly uncovered a case of myelodysplastic syndrome (MDS), highlighting the need ...

This valuable study investigates how stochastic and deterministic factors are integrated during cellular decision-making, particularly in situations where cells differentiate into distinct fates ...

Our findings indicate that the X chromosome has a predominant role in ... with no more than 15% somatic cell (Sertoli cell) contamination. The spermatogonial preparations contained no ...

Complete 1p/19q codeletion should not be confused with partial deletions, and therefore needs an accurate diagnostic technique, such as comparative genomic hybridization array. The main progress ...