about
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γDefining and expanding the phenotype of QARS-associated developmental epileptic encephalopathyCharacterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patientsDe novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGrowth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CAMegalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR
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description
researcher
@en
wetenschapper
@nl
name
Ghayda Mirzaa
@en
Ghayda Mirzaa
@nl
type
label
Ghayda Mirzaa
@en
Ghayda Mirzaa
@nl
prefLabel
Ghayda Mirzaa
@en
Ghayda Mirzaa
@nl
P31
P496
0000-0003-2648-7657