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Year Number of Results
2018 5
2019 6
2020 5
2021 7
2022 5
2023 9
2024 1

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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
miR-101a-3p Impairs Synaptic Plasticity and Contributes to Synucleinopathy.
Xylaki M, Paiva I, Al-Azzani M, Gerhardt E, Jain G, Islam MR, Vasili E, Wassouf Z, Schulze-Hentrich JM, Fischer A, Outeiro TF. Xylaki M, et al. Among authors: schulze hentrich jm. J Parkinsons Dis. 2023;13(2):179-196. doi: 10.3233/JPD-225055. J Parkinsons Dis. 2023. PMID: 36744345 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
The Challenge and Opportunity to Diagnose Parkinson's Disease in Midlife.
Kilzheimer A, Hentrich T, Burkhardt S, Schulze-Hentrich JM. Kilzheimer A, et al. Among authors: schulze hentrich jm. Front Neurol. 2019 Dec 17;10:1328. doi: 10.3389/fneur.2019.01328. eCollection 2019. Front Neurol. 2019. PMID: 31920948 Free PMC article. Review.
Targeting MYC in combination with epigenetic regulators induces synergistic anti-leukemic effects in MLLr leukemia and simultaneously improves immunity.
Fitzel R, Secker-Grob KA, Keppeler H, Korkmaz F, Schairer R, Erkner E, Schneidawind D, Lengerke C, Hentrich T, Schulze-Hentrich JM, Schneidawind C. Fitzel R, et al. Among authors: schulze hentrich jm. Neoplasia. 2023 Jul;41:100902. doi: 10.1016/j.neo.2023.100902. Epub 2023 May 4. Neoplasia. 2023. PMID: 37148657 Free PMC article.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
The Endometrial Transcription Landscape of MRKH Syndrome.
Hentrich T, Koch A, Weber N, Kilzheimer A, Maia A, Burkhardt S, Rall K, Casadei N, Kohlbacher O, Riess O, Schulze-Hentrich JM, Brucker SY. Hentrich T, et al. Front Cell Dev Biol. 2020 Sep 24;8:572281. doi: 10.3389/fcell.2020.572281. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 33072755 Free PMC article.
34 results