Researchers from the Mitochondrial Medicine Program at Children's Hospital of Philadelphia (CHOP) have better characterized a ...

We report on five unrelated patients with de novo terminal 9q34.3 microdeletions, including one patient with some clinical features resembling Opitz trigonocephaly C syndrome (OTCS). The deletion ...

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Families of children with disabilities are worried about a lawsuit Utah has joined with 16 other states that could change or ...

Yourgene Health (part of the Novacyt group of companies), a leading international molecular diagnostics group, today ...

There are also surgeries, including deep brain stimulation (DBS), that may help, DiGeorge syndrome is a rare genetic condition characterized by kidney and heart defects, learning disabilities, hearing ...

Under terms of the deal, Stoke will spearhead global development of zorevunersen, while Biogen will receive exclusive rights ...

Yourgene was acquired by Novacyt in September 2023, in a £16.7m deal.

A clinical research team from the LKS Faculty of Medicine, the University of Hong Kong (HKUMed), and international genetic researchers led a global research study using multi-omics analysis and ...

Purpose: Smith-Magenis syndrome (SMS) is a complex disorder ... On sequencing the RAI1 gene, SMS300 showed a heterozygous deletion of four bases, GCCG, starting from nucleotide 4933 that leads ...

At the opening of Morphs & Milestones’ new location at 74B Main St. in Francestown Feb. 4, a toddler reached tentatively out ...