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
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 2 |
2022 | 2 |
2023 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Rare heterozygous GDF6 variants in patients with renal anomalies.
Eur J Hum Genet. 2020 Dec;28(12):1681-1693. doi: 10.1038/s41431-020-0678-9. Epub 2020 Jul 31.
Eur J Hum Genet. 2020.
PMID: 32737436
Free PMC article.
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.
Christians A, Kesdiren E, Hennies I, Hofmann A, Trowe MO, Brand F, Martens H, Gjerstad AC, Gucev Z, Zirngibl M, Geffers R, Seeman T, Billing H, Bjerre A, Tasic V, Kispert A, Ure B, Haffner D, Dingemann J, Weber RG.
Christians A, et al.
Hum Genet. 2023 Jan;142(1):73-88. doi: 10.1007/s00439-022-02481-6. Epub 2022 Sep 6.
Hum Genet. 2023.
PMID: 36066768
Free PMC article.
Item in Clipboard
SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia.
Osmanovic A, Widjaja M, Förster A, Weder J, Wattjes MP, Lange I, Sarikidi A, Auber B, Raab P, Christians A, Preller M, Petri S, Weber RG.
Osmanovic A, et al.
J Neurol. 2020 Sep;267(9):2732-2743. doi: 10.1007/s00415-020-09861-w. Epub 2020 May 23.
J Neurol. 2020.
PMID: 32447552
Free PMC article.
Item in Clipboard
A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics.
Osmanovic A, Förster A, Widjaja M, Auber B, Das AM, Christians A, Brand F, Petri S, Weber RG.
Osmanovic A, et al.
J Neurol. 2022 Sep;269(9):4863-4871. doi: 10.1007/s00415-022-11126-7. Epub 2022 May 3.
J Neurol. 2022.
PMID: 35503374
Free PMC article.
Item in Clipboard
Cite
Cite