17 results on '"Everman, David"'
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2. Activating variants inPDGFRBresult in a spectrum of disorders responsive to imatinib monotherapy
3. Cornelia de Lange syndrome in diverse populations
4. Cover Image, Volume 176A, Number 4, April 2018
5. Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
6. Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis
7. Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder
8. Clinical, genetic, and molecular aspects of split‐hand/foot malformation: An update
9. Clinical utility of the X-chromosome array
10. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay
11. The Ontogeny of poll, fbxw4, sufu mRNA expression during Development of the Chick Limb
12. The ontogeny of beta transducin repeat containing protein mRNA expression during development of the chicken limb
13. Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region
14. Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non‐syndromic split‐hand/foot malformation
15. Autosomal dominant inheritance of infantile myofibromatosis
16. The mutational spectrum of brachydactyly type C
17. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families
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