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
3 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Publication Date timeline is not available.
Page 1
Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco.
Bone Rep. 2023 May 4;18:101683. doi: 10.1016/j.bonr.2023.101683. eCollection 2023 Jun.
Bone Rep. 2023.
PMID: 37214758
Free PMC article.
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Haag N, Tan EC, Begemann M, Buschmann L, Kraft F, Holschbach P, Lai AHM, Brett M, Mochida GH, DiTroia S, Pais L, Neil JE, Al-Saffar M, Bastaki L, Walsh CA, Kurth I, Knopp C.
Haag N, et al. Among authors: holschbach p.
Eur J Hum Genet. 2021 Nov;29(11):1663-1668. doi: 10.1038/s41431-021-00943-5. Epub 2021 Aug 20.
Eur J Hum Genet. 2021.
PMID: 34413497
Free PMC article.
Item in Clipboard
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
Elbracht M, Kraft F, Begemann M, Holschbach P, Mull M, Kabat IM, Müller B, Häusler M, Kurth I, Hehr U.
Elbracht M, et al. Among authors: holschbach p.
Mol Genet Genomic Med. 2018 Nov;6(6):1255-1260. doi: 10.1002/mgg3.490. Epub 2018 Nov 4.
Mol Genet Genomic Med. 2018.
PMID: 30393983
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.