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UnknownSevere Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin.
Not available
S-EPMC5076841 | biostudies-literature
UnknownComparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
Not available
S-EPMC9259466 | biostudies-literature
UnknownA rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.
Not available
S-EPMC8606198 | biostudies-literature
UnknownThe utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.
Not available
S-EPMC9303780 | biostudies-literature
UnknownCOG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage.
Not available
S-EPMC7718911 | biostudies-literature
UnknownCharacterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.
Not available
S-EPMC1226190 | biostudies-literature
UnknownPeriodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Not available
S-EPMC5945683 | biostudies-literature
UnknownDe novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
Not available
S-EPMC3573757 | biostudies-literature
UnknownA systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Not available
S-EPMC11144818 | biostudies-literature
UnknownDeletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
Not available
S-EPMC3083619 | biostudies-literature
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