M

MOJARRAD M.

Last name: MOJARRAD M.

2020 (v1)

Publication

Metadata-only

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

Scala M. Mojarrad M. Riazuddin S.

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Uploaded on: April 14, 2023
2017 (v1)

Publication

Metadata-only

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Zollo M. Ahmed M. Ferrucci V.

PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder in which the...

Uploaded on: April 14, 2023