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

131 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.
Khazaei S, Chen CCL, Andrade AF, Kabir N, Azarafshar P, Morcos SM, França JA, Lopes M, Lund PJ, Danieau G, Worme S, Adnani L, Nzirorera N, Chen X, Yogarajah G, Russo C, Zeinieh M, Wong CJ, Bryant L, Hébert S, Tong B, Sihota TS, Faury D, Puligandla E, Jawhar W, Sandy V, Cowan M, Nakada EM, Jerome-Majewska LA, Ellezam B, Gomes CC, Denecke J, Lessel D, McDonald MT, Pizoli CE, Taylor K, Cocanougher BT, Bhoj EJ, Gingras AC, Garcia BA, Lu C, Campos EI, Kleinman CL, Garzia L, Jabado N. Khazaei S, et al. Among authors: bhoj ej. Cell. 2023 Mar 16;186(6):1162-1178.e20. doi: 10.1016/j.cell.2023.02.023. Cell. 2023. PMID: 36931244 Free PMC article.
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH. Wenger TL, et al. Among authors: bhoj e. Am J Med Genet A. 2014 Oct;164A(10):2557-66. doi: 10.1002/ajmg.a.36696. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25123255
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.
Tooley M, Lynch D, Bernier F, Parboosingh J, Bhoj E, Zackai E, Calder A, Itasaki N, Wakeling E, Scott R, Lees M, Clayton-Smith J, Blyth M, Morton J, Shears D, Kini U, Homfray T, Clarke A, Barnicoat A, Wallis C, Hewitson R, Offiah A, Saunders M, Langton-Hewer S, Hilliard T, Davis P, Smithson S. Tooley M, et al. Among authors: bhoj e. Am J Med Genet A. 2016 May;170A(5):1115-26. doi: 10.1002/ajmg.a.37587. Epub 2016 Mar 12. Am J Med Genet A. 2016. PMID: 26971886
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
Bhoj EJ, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, Juusola J, Douglas G, Guillen Sacoto MJ, Siquier-Pernet K, Saadi A, Bole-Feysot C, Nitschke P, Narravula A, Walke M, Horner MB, Day-Salvatore DL, Jayakar P, Vergano SA, Tarnopolsky MA, Hegde M, Colleaux L, Crino P, Hakonarson H. Bhoj EJ, et al. Am J Hum Genet. 2016 Apr 7;98(4):782-8. doi: 10.1016/j.ajhg.2016.03.016. Epub 2016 Mar 31. Am J Hum Genet. 2016. PMID: 27040691 Free PMC article.
131 results