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

22 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Trang H, Samuels M, Ceccherini I, Frerick M, Garcia-Teresa MA, Peters J, Schoeber J, Migdal M, Markstrom A, Ottonello G, Piumelli R, Estevao MH, Senecic-Cala I, Gnidovec-Strazisar B, Pfleger A, Porto-Abal R, Katz-Salamon M. Trang H, et al. Among authors: schoeber j. Orphanet J Rare Dis. 2020 Sep 21;15(1):252. doi: 10.1186/s13023-020-01460-2. Orphanet J Rare Dis. 2020. PMID: 32958024 Free PMC article. Review.
Proceedings of the fourth international conference on central hypoventilation.
Trang H, Brunet JF, Rohrer H, Gallego J, Amiel J, Bachetti T, Fischbeck KH, Similowski T, Straus C, Ceccherini I, Weese-Mayer DE, Frerick M, Bieganowska K, Middleton L, Morandi F, Ottonello G; European Central Hypoventilation Syndrome Consortium. Trang H, et al. Orphanet J Rare Dis. 2014 Dec 5;9:194. doi: 10.1186/s13023-014-0194-5. Orphanet J Rare Dis. 2014. PMID: 25928806 Free PMC article. Review.
Polycystin-1 but not polycystin-2 deficiency causes upregulation of the mTOR pathway and can be synergistically targeted with rapamycin and metformin.
Mekahli D, Decuypere JP, Sammels E, Welkenhuyzen K, Schoeber J, Audrezet MP, Corvelyn A, Dechênes G, Ong AC, Wilmer MJ, van den Heuvel L, Bultynck G, Parys JB, Missiaen L, Levtchenko E, De Smedt H. Mekahli D, et al. Among authors: schoeber j. Pflugers Arch. 2014 Aug;466(8):1591-604. doi: 10.1007/s00424-013-1394-x. Epub 2013 Nov 6. Pflugers Arch. 2014. PMID: 24193408
Genetic disorders of renal phosphate transport.
Levtchenko E, Schoeber J, Jaeken J. Levtchenko E, et al. Among authors: schoeber j. N Engl J Med. 2010 Oct 28;363(18):1774; author reply 1774-5. doi: 10.1056/NEJMc1008407. N Engl J Med. 2010. PMID: 21038516 Free article. No abstract available.
Cystinosis: practical tools for diagnosis and treatment.
Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN. Wilmer MJ, et al. Among authors: schoeber jp. Pediatr Nephrol. 2011 Feb;26(2):205-15. doi: 10.1007/s00467-010-1627-6. Epub 2010 Aug 24. Pediatr Nephrol. 2011. PMID: 20734088 Free PMC article. Review.
22 results