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
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med. 2021 Sep;23(9):1715-1725. doi: 10.1038/s41436-021-01196-9. Epub 2021 May 30.
Genet Med. 2021.
PMID: 34054129
Free PMC article.
Effect of modulating glutamate signaling on myelinating oligodendrocytes and their development-A study in the zebrafish model.
Turan F, Yilmaz Ö, Schünemann L, Lindenberg TT, Kalanithy JC, Harder A, Ahmadi S, Duman T, MacDonald RB, Winter D, Liu C, Odermatt B.
Turan F, et al. Among authors: kalanithy jc.
J Neurosci Res. 2021 Nov;99(11):2774-2792. doi: 10.1002/jnr.24940. Epub 2021 Sep 14.
J Neurosci Res. 2021.
PMID: 34520578
Item in Clipboard
Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.
Schneider S, Köllges R, Stegmann JD, Thieme F, Hilger AC, Waffenschmidt L, Fazaal J, Kalanithy JC, Geipel A, Strizek B, Ludwig KU, Reutter H, Müller A.
Schneider S, et al. Among authors: kalanithy jc.
Am J Med Genet A. 2022 May;188(5):1607-1611. doi: 10.1002/ajmg.a.62643. Epub 2022 Jan 7.
Am J Med Genet A. 2022.
PMID: 34994518
No abstract available.
Item in Clipboard
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.
Zhang R, Gehlen J, Kawalia A, Melissari MT, Dakal TC, Menon AM, Höfele J, Riedhammer K, Waffenschmidt L, Fabian J, Breuer K, Kalanithy J, Hilger AC, Sharma A, Hölscher A, Boemers TM, Pauly M, Leutner A, Fuchs J, Seitz G, Ludwikowski BM, Gomez B, Hubertus J, Heydweiller A, Kurz R, Leonhardt J, Kosch F, Holland-Cunz S, Münsterer O, Ure B, Schmiedeke E, Neser J, Degenhardt P, Märzheuser S, Kleine K, Schäfer M, Spychalski N, Deffaa OJ, Gosemann JH, Lacher M, Heilmann-Heimbach S, Zwink N, Jenetzky E, Ludwig M, Grote P, Schumacher J, Thiele H, Reutter H.
Zhang R, et al.
PLoS One. 2020 Jun 5;15(6):e0234246. doi: 10.1371/journal.pone.0234246. eCollection 2020.
PLoS One. 2020.
PMID: 32502225
Free PMC article.
Item in Clipboard
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC.
Stegmann JD, et al. Among authors: kalanithy jc.
NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9.
NPJ Genom Med. 2024.
PMID: 38429302
Free PMC article.
Item in Clipboard
Cite
Cite