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Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Poll SR, Martin R, Wohler E, Partan ES, Walek E, Salman S, Groepper D, Kratz L, Cernach M, Jesus-Garcia R, Haldeman-Englert C, Choi YJ, Morris CD, Cohen B, Hoover-Fong J, Valle D, Semenza GL, Sobreira NLM. Poll SR, et al. Among authors: kratz l. PLoS Genet. 2022 Dec 8;18(12):e1010504. doi: 10.1371/journal.pgen.1010504. eCollection 2022 Dec. PLoS Genet. 2022. PMID: 36480544 Free PMC article.
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Moulton MJ, et al. Among authors: kratz l. Genet Med. 2024 Sep;26(9):101174. doi: 10.1016/j.gim.2024.101174. Epub 2024 Jun 3. Genet Med. 2024. PMID: 38847193
Tailored anticoagulant treatment after a first venous thromboembolism: protocol of the Leiden Thrombosis Recurrence Risk Prevention (L-TRRiP) study - cohort-based randomised controlled trial.
Burggraaf-van Delft JLI, van Rein N, Bemelmans RHH, van den Berg JK, Bruggeman CY, Cloos-van Balen M, Coppens M, Eefting M, Ende-Verhaar Y, van Es N, van Guldener C, de Jong WK, Kleijwegt F, Koster T, Kroon C, Kuipers S, Leentjens J, Luijten D, Mairuhu ATA, Meijer K, van de Ree MA, Roos R, Schrover I, Swart-Heikens J, van der Velden AWG, van den Akker-van Marle EM, le Cessie S, Geersing GJ, Middeldorp S, Huisman MV, Klok FA, Cannegieter SC; L-TRRiP investigators. Burggraaf-van Delft JLI, et al. BMJ Open. 2024 Mar 23;14(3):e078676. doi: 10.1136/bmjopen-2023-078676. BMJ Open. 2024. PMID: 38521524 Free PMC article.
Fumaric Aciduria: A Rare Cause of Refractory Epilepsy.
Yoganathan S, Srinivasaraghavan R, Kumar M, Kratz L, Mular S, Sudhakar SV, Malik P, Chandran M, Thomas M, Danda S. Yoganathan S, et al. Among authors: kratz l. Ann Indian Acad Neurol. 2022 Jul-Aug;25(4):738-740. doi: 10.4103/aian.aian_47_22. Epub 2022 Sep 9. Ann Indian Acad Neurol. 2022. PMID: 36211164 Free PMC article. No abstract available.
Child with D-2-Hydroxyglutaric Aciduria Type II: A Rare Neurometabolic Disorder.
Srinivasaraghavan R, Sharma S, Kratz L, Malik P, Yoganathan S, Danda S, Oommen SP. Srinivasaraghavan R, et al. Among authors: kratz l. Ann Indian Acad Neurol. 2021 Nov-Dec;24(6):933-934. doi: 10.4103/aian.AIAN_231_20. Epub 2021 Dec 17. Ann Indian Acad Neurol. 2021. PMID: 35359529 Free PMC article. No abstract available.
ATRX loss promotes immunosuppressive mechanisms in IDH1 mutant glioma.
Hu C, Wang K, Damon C, Fu Y, Ma T, Kratz L, Lal B, Ying M, Xia S, Cahill DP, Jackson CM, Lim M, Laterra J, Li Y. Hu C, et al. Among authors: kratz l. Neuro Oncol. 2022 Jun 1;24(6):888-900. doi: 10.1093/neuonc/noab292. Neuro Oncol. 2022. PMID: 34951647 Free PMC article.
Developmental features of sleep electrophysiology in family dogs.
Reicher V, Bunford N, Kis A, Carreiro C, Csibra B, Kratz L, Gácsi M. Reicher V, et al. Among authors: kratz l. Sci Rep. 2021 Nov 23;11(1):22760. doi: 10.1038/s41598-021-02117-1. Sci Rep. 2021. PMID: 34815446 Free PMC article.
92 results