Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 1
1999 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Page 1
X-linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus.
Tanner LM, Tynninen O, Piippo K, Puhakka AM. Tanner LM, et al. Prenat Diagn. 2023 Jun;43(6):730-733. doi: 10.1002/pd.6349. Epub 2023 May 16. Prenat Diagn. 2023. PMID: 37160702
Neuropathological examination confirmed the absence of corpus callosum, cerebellar hypoplasia and ventriculomegaly. Nodular neuronal heterotopia was also observed. Trio exome sequencing revealed a novel hemizygous de novo variant c.1144C>T p....
Neuropathological examination confirmed the absence of corpus callosum, cerebellar hypoplasia and ventriculomegaly. Nodular neuron …
Neuronal migration disorders: a contribution of modern neuroimaging to the etiologic diagnosis of epilepsy.
Palmini A, Andermann F, Olivier A, Tampieri D, Robitaille Y, Melanson D, Ethier R. Palmini A, et al. Can J Neurol Sci. 1991 Nov;18(4 Suppl):580-7. doi: 10.1017/s0317167100032753. Can J Neurol Sci. 1991. PMID: 1777874
In addition, there were 10 with bilateral perisylvian dysplasia, four with diffuse cortical dysplasia or the "double cortex" syndrome, three with hemimegalencephaly, one with megalencephaly, and one with nodular neuronal heterotopia. The electroclinical and i …
In addition, there were 10 with bilateral perisylvian dysplasia, four with diffuse cortical dysplasia or the "double cortex" syndrome, three …