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

319 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Hip Morphology in Mucolipidosis Type II.
Ammer LS, Oussoren E, Muschol NM, Pohl S, Rubio-Gozalbo ME, Santer R, Stuecker R, Vettorazzi E, Breyer SR. Ammer LS, et al. Among authors: santer r. J Clin Med. 2020 Mar 8;9(3):728. doi: 10.3390/jcm9030728. J Clin Med. 2020. PMID: 32182687 Free PMC article.
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.
Kollmann K, Pestka JM, Kühn SC, Schöne E, Schweizer M, Karkmann K, Otomo T, Catala-Lehnen P, Failla AV, Marshall RP, Krause M, Santer R, Amling M, Braulke T, Schinke T. Kollmann K, et al. Among authors: santer r. EMBO Mol Med. 2013 Dec;5(12):1871-86. doi: 10.1002/emmm.201302979. Epub 2013 Oct 15. EMBO Mol Med. 2013. PMID: 24127423 Free PMC article.
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
Hahn A, Praetorius S, Karabul N, Dießel J, Schmidt D, Motz R, Haase C, Baethmann M, Hennermann JB, Smitka M, Santer R, Muschol N, Meyer A, Marquardt T, Huemer M, Thiels C, Rohrbach M, Seyfullah G, Mengel E. Hahn A, et al. Among authors: santer r. JIMD Rep. 2015;20:65-75. doi: 10.1007/8904_2014_392. Epub 2015 Jan 28. JIMD Rep. 2015. PMID: 25626711 Free PMC article.
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
van der Ven AT, Johannsen J, Kortüm F, Wagner M, Tsiakas K, Bierhals T, Lessel D, Herget T, Kloth K, Lisfeld J, Scholz T, Obi N, Wortmann S, Prokisch H, Kubisch C, Denecke J, Santer R, Hempel M. van der Ven AT, et al. Among authors: santer r. Clin Genet. 2021 Dec;100(6):766-770. doi: 10.1111/cge.14061. Epub 2021 Sep 19. Clin Genet. 2021. PMID: 34490615
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Grünert SC, Derks TGJ, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic MD, Eiroa H, Finezilber Y, Moura de Souza CF, Garcia-Jiménez MC, Gasperini S, Haas D, Häberle J, Halligan R, Fung LH, Hörbe-Blindt A, Horka LM, Huemer M, Uçar SK, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier EM, Maiorana A, McCandless SE, Mitchell JJ, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile PQ, Regier D, Rossi A, Santer R, Schuman HC, Sobieraj P, Spenger J, Spiegel R, Stepien KM, Tal G, Tanšek MZ, Torkar AD, Tchan M, Thyagu S, Schrier Vergano SA, Vucko E, Weinhold N, Zsidegh P, Wortmann SB. Grünert SC, et al. Among authors: santer r. Genet Med. 2022 Aug;24(8):1781-1788. doi: 10.1016/j.gim.2022.04.001. Epub 2022 May 3. Genet Med. 2022. PMID: 35503103 Free article.
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.
Andersen PM, Nordström U, Tsiakas K, Johannsen J, Volk AE, Bierhals T, Zetterström P, Marklund SL, Hempel M, Santer R. Andersen PM, et al. Among authors: santer r. N Engl J Med. 2019 Aug 1;381(5):486-488. doi: 10.1056/NEJMc1905039. Epub 2019 Jul 17. N Engl J Med. 2019. PMID: 31314961 No abstract available.
319 results