Résultats de la recherche

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Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist.
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

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