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9 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

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

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

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

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