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Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Chromosomal haplotypes by genetic phasing of human families.
Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.