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10 results on '"King-Smith, Sarah L"'

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1. Glycoengineered keratinocyte library reveals essential functions of specific glycans for all stages of HSV-1 infection

2. Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

3. Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

4. Cover, Volume 42, Issue 11

5. GATA2 deficiency syndrome: A decade of discovery

6. The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

7. Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

8. RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

9. Paternal mosaicism for a novelPBX1mutation associated with recurrent perinatal death: Phenotypic expansion of thePBX1‐related syndrome

10. Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

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