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

80 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. Reijnders MRF, et al. Among authors: poulter ja. Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057673 Free article.
A Recessively Inherited Risk Locus on Chromosome 13q22-31 Conferring Susceptibility to Schizophrenia.
Mahmood T, El-Asrag ME, Poulter JA, Cardno AG, Tomlinson A, Ahmed S, Al-Amri A, Nazari J, Neill J, Chamali RS, Kiwan N, Ghuloum S, Alhaj HA, Randerson Moor J, Khan S, Al-Amin H, Johnson CA, Woodruff P, Wilkinson ID, Ali M, Clapcote SJ, Inglehearn CF. Mahmood T, et al. Among authors: poulter ja. Schizophr Bull. 2021 Apr 29;47(3):796-802. doi: 10.1093/schbul/sbaa161. Schizophr Bull. 2021. PMID: 33159203 Free PMC article.
Food portion weights in primary and secondary school lunches in England.
Howell Davies O, Suleiman S, Nicholas J, Bradbury J, Msebele S, Prior G, Hall L, Wreford S, Jarvis L, McGee A, Poulter J, Nelson M. Howell Davies O, et al. J Hum Nutr Diet. 2008 Feb;21(1):46-62. doi: 10.1111/j.1365-277X.2007.00846.x. J Hum Nutr Diet. 2008. PMID: 18184394
Patterns of inheritance, not always easily visible.
Khan KN, Ali M, Poulter JA, McKibbin M, Inglehearn CF. Khan KN, et al. Among authors: poulter ja. BMJ. 2013 Nov 6;347:f6610. doi: 10.1136/bmj.f6610. BMJ. 2013. PMID: 24196503 No abstract available.
Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.
Poulter JA, Collins JC, Cargo C, De Tute RM, Evans P, Ospina Cardona D, Bowen DT, Cunnington JR, Baguley E, Quinn M, Green M, McGonagle D, Beck DB, Werner A, Savic S. Poulter JA, et al. Blood. 2021 Jul 1;137(26):3676-3681. doi: 10.1182/blood.2020010286. Blood. 2021. PMID: 33690815 Free PMC article.
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.
Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C; Uk Inherited Retinal Disease Consortium; Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR. Sergouniotis PI, et al. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8083-90. doi: 10.1167/iovs.15-17604. Invest Ophthalmol Vis Sci. 2015. PMID: 26720460 Free article.
Dietary fat and fibre--action in the workplace.
Torrance I, Poulter J. Torrance I, et al. Occup Med (Lond). 1993 Aug;43(3):121-2. doi: 10.1093/occmed/43.3.121. Occup Med (Lond). 1993. PMID: 8400203 No abstract available.
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
Poulter JA, Davidson AE, Ali M, Gilmour DF, Parry DA, Mintz-Hittner HA, Carr IM, Bottomley HM, Long VW, Downey LM, Sergouniotis PI, Wright GA, MacLaren RE, Moore AT, Webster AR, Inglehearn CF, Toomes C. Poulter JA, et al. Invest Ophthalmol Vis Sci. 2012 May 14;53(6):2873-9. doi: 10.1167/iovs.11-8629. Invest Ophthalmol Vis Sci. 2012. PMID: 22427576
80 results