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You searched for: Author/Creator Ruaud, Lyse

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1. Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function. Issue 8 (4th June 2018)

2. Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature. Issue 10 (15th April 2022)

3. Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity. Issue 6 (25th March 2020)

5. EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder. Issue 4 (1st July 2021)

6. Neurological outcome in WDR62 primary microcephaly. (25th September 2021)

7. Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder. Issue 7 (3rd May 2021)

8. Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort. Issue 4 (5th January 2021)