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Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico

Patients with rare, undiagnosed, or genetic disease (RUGD) often undergo years of serial testing, commonly referred to as the “diagnostic odyssey”. Patients in resource-limited areas face even greater challenges—a definitive diagnosis may never be reached due to difficulties in gaining access to cli...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:NPJ Genom Med
मुख्य लेखकों: Scocchia, Alicia, Wigby, Kristen M., Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I., Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Ajay, Subramanian S., Rajan, Vani, Perry, Denise L., Belmont, John W., Bentley, David R., Jones, Marilyn C., Taft, Ryan J.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Nature Publishing Group UK 2019
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC6375919/
https://ncbi.nlm.nih.gov/pubmed/30792901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-018-0076-1
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