Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
4 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Publication Date timeline is not available.
Page 1
Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia.
Biomedicines. 2023 Dec 27;12(1):64. doi: 10.3390/biomedicines12010064.
Biomedicines. 2023.
PMID: 38255170
Free PMC article.
A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype.
Papingi D, Bierhals T, Volk AE, Kutsche M, Paul K, Herget T.
Papingi D, et al.
Am J Med Genet A. 2024 May;194(5):e63515. doi: 10.1002/ajmg.a.63515. Epub 2023 Dec 22.
Am J Med Genet A. 2024.
PMID: 38135897
Item in Clipboard
Siblings with Gorlin-Goltz syndrome associated with cardiac tumors: a case report and review of literature.
Wilke PI, Biermann D, Grafmann M, Kozlik-Feldmann R, Papingi D, Sachweh JS, Stute F, Olfe J.
Wilke PI, et al. Among authors: papingi d.
Orphanet J Rare Dis. 2023 Jul 5;18(1):178. doi: 10.1186/s13023-023-02792-5.
Orphanet J Rare Dis. 2023.
PMID: 37408081
Free PMC article.
Review.
Item in Clipboard
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T.
Mackay D, et al. Among authors: papingi d.
Clin Epigenetics. 2022 Nov 7;14(1):143. doi: 10.1186/s13148-022-01358-9.
Clin Epigenetics. 2022.
PMID: 36345041
Free PMC article.
Item in Clipboard
Cite
Cite
ARTICLE TYPE
ARTICLE LANGUAGE
AGE
Filters on the sidebar will be reset to the default list and any currently applied filters will be cleared.