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

298 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli D, van Scherpenzeel M, Janssen M, de Boer L, van den Heuvel LP, Thiel C, Lefeber DJ. Abu Bakar N, et al. Among authors: gorman k. J Inherit Metab Dis. 2022 Jul;45(4):769-781. doi: 10.1002/jimd.12496. Epub 2022 Mar 28. J Inherit Metab Dis. 2022. PMID: 35279850 Free PMC article.
Paroxysmal Movement Disorders.
Harvey S, King MD, Gorman KM. Harvey S, et al. Front Neurol. 2021 Jun 11;12:659064. doi: 10.3389/fneur.2021.659064. eCollection 2021. Front Neurol. 2021. PMID: 34177764 Free PMC article. Review.
Psychiatric comorbidity is common in dystonia and other movement disorders.
Lorentzos MS, Heyman I, Baig BJ, Coughtrey AE, McWilliams A, Dossetor DR, Waugh MC, Evans RA, Hollywood J, Burns J, Menezes MP, Mohammad SS, Grattan-Smith P, Gorman KM, Crowe BHA, Goodman R, Kurian MA, Dale RC. Lorentzos MS, et al. Arch Dis Child. 2021 Jan;106(1):62-67. doi: 10.1136/archdischild-2020-319541. Epub 2020 Jul 24. Arch Dis Child. 2021. PMID: 32709686
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Reid KM, Spaull R, Salian S, Barwick K, Meyer E, Zhen J, Hirata H, Sheipouri D, Benkerroum H, Gorman KM, Papandreou A, Simpson MA, Hirano Y, Farabella I, Topf M, Grozeva D, Carss K, Smith M, Pall H, Lunt P, De Gressi S, Kamsteeg EJ, Haack TB, Carr L, Guerreiro R, Bras J, Maher ER, Scott RH, Vandenberg RJ, Raymond FL, Chong WK, Sudhakar S, Mankad K, Reith ME, Campeau PM, Harvey RJ, Kurian MA. Reid KM, et al. Among authors: gorman km. Mov Disord. 2022 Oct;37(10):2139-2146. doi: 10.1002/mds.29147. Epub 2022 Jul 25. Mov Disord. 2022. PMID: 35876425 Free PMC article.
298 results