22q11.2 Deletion Syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder, arising chiefly from de novo non-homologous meiotic recombination events. This condition presents with a ...
Harmony also touts late-stage asset EPX-100 (clemizole hydrochloride), which the biotech is running through a pair of phase 3 trials in Dravet syndrome and Lennox-Gastaut Syndrome— both rare forms of ...
A recent study led by UC Davis Health researchers provides new insights into the molecular changes linked to the rare genetic condition 22q11.2 deletion syndrome, or 22q. It found unique biomarkers ...
Zynerba Pharmaceuticals, Inc. ZYNE presented positive long-term 38-week data from the phase 2 INSPIRE trial with Zygel in children and adolescents with 22q11.2 deletion syndrome. The data were ...
When discussing the value of screening for 22q, the authors concluded that, “the PPV of cfDNA for 22q11.2DS is higher and the false positive rate is lower than that associated with other accepted ...
Brain activity patterns during sleep shed light on the neurobiology behind 22q11.2 Deletion Syndrome
The brain activity patterns during sleep shed light on the neurobiology behind a genetic condition called 22q11.2 Deletion Syndrome (22q11.2DS) and could be used as a biomarker to detect the onset of ...
[Analysis of a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing]. [Discussion on the status quo and solutions to the prevention and ...
DEVON, Pa., Nov. 02, 2022 (GLOBE NEWSWIRE) -- Zynerba Pharmaceuticals, Inc. (Nasdaq: ZYNE), the leader in innovative pharmaceutically-produced transdermal cannabinoid therapies for orphan ...
SHALLOTTE, N.C. (WECT) -Mercy Little is a fun-loving nine-year-old from Shallotte who loves art, playing with her brother and sisters, and spending time with her family. At first glance, she seems ...
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