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UnknownSeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.
Not available
S-EPMC11947171 | biostudies-literature
UnknownCFAP47 is Implicated in X-Linked Polycystic Kidney Disease.
Not available
S-EPMC11652189 | biostudies-literature
UnknownSUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Not available
S-EPMC9411896 | biostudies-literature
UnknownBeyond the exome: What's next in diagnostic testing for Mendelian conditions.
Not available
S-EPMC10432150 | biostudies-literature
UnknownConsiderations for reporting variants in novel candidate genes identified during clinical genomic testing.
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S-EPMC11456385 | biostudies-literature
UnknownDominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Not available
S-EPMC10270265 | biostudies-literature
UnknownEfficacy and Safety of NVX-CoV2373 in Adults in the United States and Mexico.
Not available
S-EPMC8693692 | biostudies-literature
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