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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

113 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Case report: Novel variants cause developmental and epileptic encephalopathy in three unrelated families from Mali.
Bamba S, Sidibé L, Diallo SH, Cissé L, Dembélé K, Yalcouyé A, Ji W, Dembélé ME, Diarra S, Maiga ADB, Traoré O, Diallo S, Mefoung SE, Touré A, Koné A, Jeffries L, Guinto CO, Mis EK, Fischbeck KH, Khokha MK, Lakhani SA, Landouré G. Bamba S, et al. Among authors: jeffries l. Front Genet. 2024 Nov 18;15:1412442. doi: 10.3389/fgene.2024.1412442. eCollection 2024. Front Genet. 2024. PMID: 39624497 Free PMC article.
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.
Cissé L, Bamba S, Diallo SH, Ji W, Dembélé ME, Yalcouyé A, Coulibaly T, Traoré I, Jeffries L, Diarra S, Maiga ADB, Diallo S, Nimaga K, Touré A, Traoré O, Kotioumbé M, Mis EK, Cissé CAK, Guinto CO, Fischbeck KH, Khokha MK, Lakhani SA, Landouré G. Cissé L, et al. Among authors: jeffries l. Front Neurol. 2024 Sep 25;15:1455467. doi: 10.3389/fneur.2024.1455467. eCollection 2024. Front Neurol. 2024. PMID: 39385815 Free PMC article.
Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants.
Landim-Vieira M, Johnston JR, Ji W, Mis EK, Tijerino J, Spencer-Manzon M, Jeffries L, Hall EK, Panisello-Manterola D, Khokha MK, Deniz E, Chase PB, Lakhani SA, Pinto JR. Landim-Vieira M, et al. Among authors: jeffries l. Front Physiol. 2020 Jan 22;10:1612. doi: 10.3389/fphys.2019.01612. eCollection 2019. Front Physiol. 2020. PMID: 32038292 Free PMC article.
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Mis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez-Agosto JA, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M; Undiagnosed Diseases Network; Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA. Mis EK, et al. Among authors: jeffries l. Am J Med Genet A. 2021 Apr;185(4):1076-1080. doi: 10.1002/ajmg.a.62064. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33438828 Free PMC article.
113 results