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UnknownThe prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study.
Not available
S-EPMC9303252 | biostudies-literature
UnknownPrenatal gender-customized head circumference nomograms result in reclassification of microcephaly and macrocephaly.
Not available
S-EPMC9972400 | biostudies-literature
UnknownPhenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Not available
S-EPMC6906308 | biostudies-literature
UnknownA truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
Not available
S-EPMC2790576 | biostudies-literature
UnknownBi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
Not available
S-EPMC7118584 | biostudies-literature
UnknownTerminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
Not available
S-EPMC2896768 | biostudies-literature
UnknownRIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
Not available
S-EPMC2725231 | biostudies-literature
UnknownDeficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.
Not available
S-EPMC3516591 | biostudies-literature
UnknownMutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Not available
S-EPMC3791256 | biostudies-literature
UnknownLysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
Not available
S-EPMC7269600 | biostudies-literature
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