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

Results by year

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

Year Number of Results
1993 1
1994 1
1996 2
1997 1
1998 2
2000 1
2001 1
2003 1
2009 1
2011 1
2012 2
2013 1
2015 2
2019 2
2020 2
2022 1
2023 2
2024 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

23 results

Results by year

Filters applied: . Clear all
Page 1
Smith-Lemli-Opitz syndrome and the DHCR7 gene.
Jira PE, Waterham HR, Wanders RJ, Smeitink JA, Sengers RC, Wevers RA. Jira PE, et al. Ann Hum Genet. 2003 May;67(Pt 3):269-80. doi: 10.1046/j.1469-1809.2003.00034.x. Ann Hum Genet. 2003. PMID: 12914579 Review.
Primrose syndrome: Characterization of the phenotype in 42 patients.
Melis D, Carvalho D, Barbaro-Dieber T, Espay AJ, Gambello MJ, Gener B, Gerkes E, Hitzert MM, Hove HB, Jansen S, Jira PE, Lachlan K, Menke LA, Narayanan V, Ortiz D, Overwater E, Posmyk R, Ramsey K, Rossi A, Sandoval RL, Stumpel C, Stuurman KE, Cordeddu V, Turnpenny P, Strisciuglio P, Tartaglia M, Unger S, Waters T, Turnbull C, Hennekam RC. Melis D, et al. Among authors: jira pe. Clin Genet. 2020 Jun;97(6):890-901. doi: 10.1111/cge.13749. Epub 2020 Apr 20. Clin Genet. 2020. PMID: 32266967 Free PMC article.
Genetic and environmental factors driving congenital solitary functioning kidney.
Groen In 't Woud S, van Gelder MMHJ, van Rooij IALM, Feitz WFJ, Roeleveld N, Schreuder MF, van der Zanden LFM; SOFIA study group. Groen In 't Woud S, et al. Nephrol Dial Transplant. 2024 Feb 28;39(3):463-472. doi: 10.1093/ndt/gfad202. Nephrol Dial Transplant. 2024. PMID: 37738450 Free PMC article.
Uncovering risk factors for kidney injury in children with a solitary functioning kidney.
Groen In 't Woud S, Roeleveld N, Westland R, Renkema KY, Steffens MG, Gracchi V, Lilien MR, van Wijk JAE, Feitz WFJ, Schreuder MF, van der Zanden LFM; Solitary Functioning Kidney: Aetiology and Prognosis (SOFIA) study group. Groen In 't Woud S, et al. Kidney Int. 2023 Jan;103(1):156-165. doi: 10.1016/j.kint.2022.09.028. Epub 2022 Oct 28. Kidney Int. 2023. PMID: 36374825 Free article.
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Krone N, Reisch N, Idkowiak J, Dhir V, Ivison HE, Hughes BA, Rose IT, O'Neil DM, Vijzelaar R, Smith MJ, MacDonald F, Cole TR, Adolphs N, Barton JS, Blair EM, Braddock SR, Collins F, Cragun DL, Dattani MT, Day R, Dougan S, Feist M, Gottschalk ME, Gregory JW, Haim M, Harrison R, Olney AH, Hauffa BP, Hindmarsh PC, Hopkin RJ, Jira PE, Kempers M, Kerstens MN, Khalifa MM, Köhler B, Maiter D, Nielsen S, O'Riordan SM, Roth CL, Shane KP, Silink M, Stikkelbroeck NM, Sweeney E, Szarras-Czapnik M, Waterson JR, Williamson L, Hartmann MF, Taylor NF, Wudy SA, Malunowicz EM, Shackleton CH, Arlt W. Krone N, et al. Among authors: jira pe. J Clin Endocrinol Metab. 2012 Feb;97(2):E257-67. doi: 10.1210/jc.2011-0640. Epub 2011 Dec 7. J Clin Endocrinol Metab. 2012. PMID: 22162478 Free PMC article.
Eight years of growth hormone treatment in children with Prader-Willi syndrome: maintaining the positive effects.
Bakker NE, Kuppens RJ, Siemensma EP, Tummers-de Lind van Wijngaarden RF, Festen DA, Bindels-de Heus GC, Bocca G, Haring DA, Hoorweg-Nijman JJ, Houdijk EC, Jira PE, Lunshof L, Odink RJ, Oostdijk W, Rotteveel J, Schroor EJ, Van Alfen AA, Van Leeuwen M, Van Pinxteren-Nagler E, Van Wieringen H, Vreuls RC, Zwaveling-Soonawala N, de Ridder MA, Hokken-Koelega AC. Bakker NE, et al. Among authors: jira pe. J Clin Endocrinol Metab. 2013 Oct;98(10):4013-22. doi: 10.1210/jc.2013-2012. Epub 2013 Sep 3. J Clin Endocrinol Metab. 2013. PMID: 24001750
23 results