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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

79 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Evers C, Staufner C, Granzow M, Paramasivam N, Hinderhofer K, Kaufmann L, Fischer C, Thiel C, Opladen T, Kotzaeridou U, Wiemann S, Schlesner M, Eils R, Kölker S, Bartram CR, Hoffmann GF, Moog U. Evers C, et al. Among authors: hinderhofer k. Mol Genet Metab. 2017 Aug;121(4):297-307. doi: 10.1016/j.ymgme.2017.06.014. Epub 2017 Jun 30. Mol Genet Metab. 2017. PMID: 28688840
Quantitative retrospective natural history modeling for orphan drug development.
Garbade SF, Zielonka M, Komatsuzaki S, Kölker S, Hoffmann GF, Hinderhofer K, Mountford WK, Mengel E, Sláma T, Mechler K, Ries M. Garbade SF, et al. Among authors: hinderhofer k. J Inherit Metab Dis. 2021 Jan;44(1):99-109. doi: 10.1002/jimd.12304. Epub 2020 Sep 8. J Inherit Metab Dis. 2021. PMID: 32845020 Review.
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann … See abstract for full author list ➔ Schmidt A, et al. Among authors: hinderhofer k. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Real-world outcomes in non-endemic hereditary transthyretin amyloidosis with polyneuropathy: a 20-year German single-referral centre experience.
Ungerer MN, Hund E, Purrucker JC, Huber L, Kimmich C, Aus dem Siepen F, Hein S, Kristen AV, Hinderhofer K, Kollmer J, Schönland S, Hegenbart U, Weiler M. Ungerer MN, et al. Among authors: hinderhofer k. Amyloid. 2021 Jun;28(2):91-99. doi: 10.1080/13506129.2020.1855134. Epub 2020 Dec 7. Amyloid. 2021. PMID: 33283548 Free article.
79 results