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18 results on '"Davies, Sally J."'

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1. Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

2. Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

3. De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

5. Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

7. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

10. De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment GeneCHAMP1Cause Syndromic Intellectual Disability

11. Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

13. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

16. Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

17. Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

18. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

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