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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2019 1
2020 1
2021 1
2022 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Williams ST, Chatzikyriakou P, Carroll PV, McGowan BM, Velusamy A, White G, Obholzer R, Akker S, Tufton N, Casey RT, Maher ER, Park SM, Porteous M, Dyer R, Tan T, Wernig F, Brady AF, Kosicka-Slawinska M, Whitelaw BC, Dorkins H, Lalloo F, Brennan P, Carlow J, Martin R, Mitchell AL, Harrison R, Hawkes L, Newell-Price J, Kelsall A, Igbokwe R, Adlard J, Schirwani S, Davidson R, Morrison PJ, Chung TT, Bowles C, Izatt L. Williams ST, et al. Among authors: igbokwe r. Clin Endocrinol (Oxf). 2022 Apr;96(4):499-512. doi: 10.1111/cen.14594. Epub 2021 Sep 24. Clin Endocrinol (Oxf). 2022. PMID: 34558728 Free article.
Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe.
Nowotny H, Neumann U, Tardy-Guidollet V, Ahmed SF, Baronio F, Battelino T, Bertherat J, Blankenstein O, Bonomi M, Bouvattier C, Brac de la Perrière A, Brucker S, Cappa M, Chanson P, Claahsen-van der Grinten HL, Colao A, Cools M, Davies JH, Dörr HG, Fenske WK, Ghigo E, Giordano R, Gravholt CH, Huebner A, Husebye ES, Igbokwe R, Juul A, Kiefer FW, Léger J, Menassa R, Meyer G, Neocleous V, Phylactou LA, Rohayem J, Russo G, Scaroni C, Touraine P, Unger N, Vojtková J, Yeste D, Lajic S, Reisch N. Nowotny H, et al. Among authors: igbokwe r. Eur J Endocrinol. 2022 Mar 23;186(5):K17-K24. doi: 10.1530/EJE-21-0554. Eur J Endocrinol. 2022. PMID: 35235536 Free PMC article.
Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial.
Mullen M, Jin XY, Child A, Stuart AG, Dodd M, Aragon-Martin JA, Gaze D, Kiotsekoglou A, Yuan L, Hu J, Foley C, Van Dyck L, Knight R, Clayton T, Swan L, Thomson JDR, Erdem G, Crossman D, Flather M; AIMS Investigators. Mullen M, et al. Lancet. 2019 Dec 21;394(10216):2263-2270. doi: 10.1016/S0140-6736(19)32518-8. Epub 2019 Dec 10. Lancet. 2019. PMID: 31836196 Free PMC article. Clinical Trial.
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
Foster A, Chalot B, Antoniadi T, Schaefer E, Keelagher R, Ryan G, Thomas Q, Philippe C, Bruel AL, Sorlin A, Thauvin-Robinet C, Bardou M, Luu M, Quenardelle V, Wolff V, Woodley J, Vabres P, Lim D, Igbokwe R, Joseph A, Walker H, Jester A, Ellenbogen J, Johnson D, Rooke B, Moss C, Cole T, Faivre L. Foster A, et al. Among authors: igbokwe r. Clin Genet. 2020 Jul;98(1):19-31. doi: 10.1111/cge.13752. Epub 2020 May 4. Clin Genet. 2020. PMID: 32291752