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

118 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
Karsai G, Kraft F, Haag N, Korenke GC, Hänisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schröder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I. Karsai G, et al. Among authors: kraft f. J Clin Invest. 2019 Mar 1;129(3):1229-1239. doi: 10.1172/JCI124159. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620338 Free PMC article.
Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M. Meyer R, et al. Among authors: kraft f. Bone. 2019 Oct;127:446-451. doi: 10.1016/j.bone.2019.07.016. Epub 2019 Jul 17. Bone. 2019. PMID: 31325655
Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma.
Begemann M, Waszak SM, Robinson GW, Jäger N, Sharma T, Knopp C, Kraft F, Moser O, Mynarek M, Guerrini-Rousseau L, Brugieres L, Varlet P, Pietsch T, Bowers DC, Chintagumpala M, Sahm F, Korbel JO, Rutkowski S, Eggermann T, Gajjar A, Northcott P, Elbracht M, Pfister SM, Kontny U, Kurth I. Begemann M, et al. Among authors: kraft f. J Clin Oncol. 2020 Jan 1;38(1):43-50. doi: 10.1200/JCO.19.00577. Epub 2019 Oct 14. J Clin Oncol. 2020. PMID: 31609649 Free PMC article.
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Florian RT, Kraft F, Leitão E, Kaya S, Klebe S, Magnin E, van Rootselaar AF, Buratti J, Kühnel T, Schröder C, Giesselmann S, Tschernoster N, Altmueller J, Lamiral A, Keren B, Nava C, Bouteiller D, Forlani S, Jornea L, Kubica R, Ye T, Plassard D, Jost B, Meyer V, Deleuze JF, Delpu Y, Avarello MDM, Vijfhuizen LS, Rudolf G, Hirsch E, Kroes T, Reif PS, Rosenow F, Ganos C, Vidailhet M, Thivard L, Mathieu A, Bourgeron T, Kurth I, Rafehi H, Steenpass L, Horsthemke B; FAME consortium; LeGuern E, Klein KM, Labauge P, Bennett MF, Bahlo M, Gecz J, Corbett MA, Tijssen MAJ, van den Maagdenberg AMJM, Depienne C. Florian RT, et al. Among authors: kraft f. Nat Commun. 2019 Oct 29;10(1):4919. doi: 10.1038/s41467-019-12763-9. Nat Commun. 2019. PMID: 31664039 Free PMC article.
118 results