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Genomic Analysis Software: A Comprehensive Guide for Healthcare Facilities and Patients Imagine a spell-checker, but for DNA: compared to displaying a misspelt word, it detects...
“We Didn’t Know It Had a Name”: Recognizing Fragile X Syndrome in Real Life It often starts with subtle signs: a toddler who isn’t speaking...
Neurofibromatosis: From early recognition to genetic variants and the new international criteria Neurofibromatosis (NF) is the name for a group of related but distinct genetic...
Dravet Syndrome: The Critical Importance of Early Diagnosis by Genome Sequencing & Variant Identification Over 80% of DS patients suffer from truncating and missense mutations...
