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

43 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M. Herlin LK, et al. Among authors: beck nielsen ss. Eur J Med Genet. 2024 Apr 2;69:104937. doi: 10.1016/j.ejmg.2024.104937. Online ahead of print. Eur J Med Genet. 2024. PMID: 38574886 Free article.
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.
Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Mughal MZ, Nilsson O, Schnabel D, Tripto-Shkolnik L, Liu J, Williams A, Wood S, Zillikens MC. Ariceta G, et al. Among authors: beck nielsen ss. Orphanet J Rare Dis. 2023 Sep 27;18(1):304. doi: 10.1186/s13023-023-02882-4. Orphanet J Rare Dis. 2023. PMID: 37752558 Free PMC article.
Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis.
M Boot A, Ariceta G, Beck-Nielsen SS, Brandi ML, Briot K, Collantes CL, Giannini S, Haffner D, Keen R, Levtchenko E, Mughal MZ, Makitie O, Nilsson O, Schnabel D, Tripto-Shkolnik L, Zillikens MC, Liu J, Tudor A, Emma F. M Boot A, et al. Among authors: beck nielsen ss. Ther Adv Chronic Dis. 2024 May 18;15:20406223241247643. doi: 10.1177/20406223241247643. eCollection 2024. Ther Adv Chronic Dis. 2024. PMID: 38764445 Free PMC article.
Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description.
Brandi ML, Ariceta G, Beck-Nielsen SS, Boot AM, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Nilsson O, Schnabel D, Tripto-Shkolnik L, Zillikens MC, Liu J, Tudor A, Mughal MZ. Brandi ML, et al. Among authors: beck nielsen ss. Ther Adv Chronic Dis. 2022 Sep 5;13:20406223221117471. doi: 10.1177/20406223221117471. eCollection 2022. Ther Adv Chronic Dis. 2022. PMID: 36082134 Free PMC article.
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance.
Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU, Kiilgaard JF, Friis-Hansen L, Harbud V, Cortnum S, Owen H, Gimsing S, Friis Juhl HA, Munthe S, Geilswijk M, Rasmussen ÅK, Møldrup U, Graumann O, Donskov F, Grønbæk H, Stausbøl-Grøn B, Schaffalitzky de Muckadell O, Knigge U, Dam G, Wadt KA, Bøgeskov L, Bagi P, Lund L, Stochholm K, Ousager LB, Sunde L. Louise M Binderup M, et al. Among authors: beck nielsen ss. Eur J Med Genet. 2022 Aug;65(8):104538. doi: 10.1016/j.ejmg.2022.104538. Epub 2022 Jun 13. Eur J Med Genet. 2022. PMID: 35709961 Free article.
Milk Products in the Treatment of Hypophosphatemic Rickets: A Pilot Study.
Jørgensen CS, Poulsen VML, Sandahl M, Underbjerg L, Kristensen SB, Piec I, Beck-Nielsen SS, Rejnmark L, Birkebæk NH. Jørgensen CS, et al. Among authors: beck nielsen ss. Int J Endocrinol Metab. 2019 Oct 6;17(4):e91454. doi: 10.5812/ijem.91454. eCollection 2019 Oct. Int J Endocrinol Metab. 2019. PMID: 31903094 Free PMC article.
43 results