Last Updated: 09/26/2026
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Found 6 publications
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.
Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: February 16, 2018
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: September 08, 2016
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.
Journal: American journal of human genetics
Published: December 13, 2014
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
Journal: Neurology
Published: October 01, 2013
Diagnostic delay of autism in Jordan: review of 84 cases.
Journal: The Libyan journal of medicine
Published: August 22, 2013
Using whole-exome sequencing to identify inherited causes of autism.
Journal: Neuron
Published: November 02, 2012
Showing 1-6 of 6
Last Updated: 09/26/2026