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

Text availability

Article attribute

Article type

Publication date

Search Results

3,350 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J; EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group; Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC. Carvill GL, et al. Among authors: nguyen j. Am J Hum Genet. 2018 Dec 6;103(6):1022-1029. doi: 10.1016/j.ajhg.2018.10.023. Am J Hum Genet. 2018. PMID: 30526861 Free PMC article.
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Møller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S; EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group; Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC. Carvill GL, et al. Among authors: nguyen j. Am J Hum Genet. 2015 May 7;96(5):808-15. doi: 10.1016/j.ajhg.2015.02.016. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865495 Free PMC article.
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.
Myers KA, Marini C, Carvill GL, McTague A, Panetta J, Stutterd C, Stanley T, Marin S, Nguyen J, Barba C, Rosati A, Scott RH, Mefford HC, Guerrini R, Scheffer IE. Myers KA, et al. Among authors: nguyen j. Neurol Genet. 2021 Mar 18;7(2):e579. doi: 10.1212/NXG.0000000000000579. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33912662 Free PMC article.
Thyrotoxicosis Presenting as an Acute Abdomen.
Woolery S, Freedberg M, Sciarretta JD, Castater C, Nguyen J. Woolery S, et al. Among authors: nguyen j. Am Surg. 2024 Jun 3:31348241259048. doi: 10.1177/00031348241259048. Online ahead of print. Am Surg. 2024. PMID: 38828777
Proposal for an optimised definition of adverse pathology (unfavourable histology) that predicts metastatic risk in prostatic adenocarcinoma independent of grade group and pathological stage.
Nguyen JK, Harik LR, Klein EA, Li J, Corrigan D, Liu S, Chan E, Hawley S, Auman H, Newcomb LF, Carroll PR, Cooperberg MR, Filson CP, Simko JP, Nelson PS, Tretiakova MS, Troyer D, True LD, Vakar-Lopez F, Weight CJ, Lin DW, Brooks JD, McKenney JK. Nguyen JK, et al. Histopathology. 2024 Jun 3. doi: 10.1111/his.15231. Online ahead of print. Histopathology. 2024. PMID: 38828674
Triple Radical Sorting: Aryl-Alkylation of Alkenes.
Wang JZ, Mao E, Nguyen JA, Lyon WL, MacMillan DWC. Wang JZ, et al. Among authors: nguyen ja. J Am Chem Soc. 2024 May 31. doi: 10.1021/jacs.4c05744. Online ahead of print. J Am Chem Soc. 2024. PMID: 38820134
Acellular Fish Skin Grafts for Treatment of Periocular Skin Defects.
Wang D, Maliakkal J, Sadat O, Codrea V, Nguyen J. Wang D, et al. Among authors: nguyen j. Ophthalmic Plast Reconstr Surg. 2024 May 31. doi: 10.1097/IOP.0000000000002699. Online ahead of print. Ophthalmic Plast Reconstr Surg. 2024. PMID: 38819161
Relaxin-2 is a novel biomarker for differentiated thyroid carcinoma in humans.
Kotwal A, Simpson R, Whiteman N, Swanson B, Yuil-Valdes A, Fitch M, Nguyen J, Elhag S, Shats O, Goldner W, Bennett R. Kotwal A, et al. Among authors: nguyen j. Biochem Pharmacol. 2024 May 28:116323. doi: 10.1016/j.bcp.2024.116323. Online ahead of print. Biochem Pharmacol. 2024. PMID: 38815632
3,350 results