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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2000 2
2003 1
2008 1
2009 1
2010 2
2011 1
2012 1
2013 2
2014 1
2015 2
2016 5
2017 4
2018 1
2019 3
2020 7
2021 3
2022 3
2023 0
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35 results
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Page 1
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.
van der Welle REN, Jobling R, Burns C, Sanza P, van der Beek JA, Fasano A, Chen L, Zwartkruis FJ, Zwakenberg S, Griffin EF, Ten Brink C, Veenendaal T, Liv N, van Ravenswaaij-Arts CMA, Lemmink HH, Pfundt R, Blaser S, Sepulveda C, Lozano AM, Yoon G, Santiago-Sim T, Asensio CS, Caldwell GA, Caldwell KA, Chitayat D, Klumperman J. van der Welle REN, et al. Among authors: lemmink hh. EMBO Mol Med. 2021 May 7;13(5):e13258. doi: 10.15252/emmm.202013258. Epub 2021 Apr 14. EMBO Mol Med. 2021. PMID: 33851776 Free PMC article.
Hereditary Nephrogenic Diabetes Insipidus.
Knoers N, Lemmink H. Knoers N, et al. Among authors: lemmink h. 2000 Feb 12 [updated 2020 Feb 27]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2000 Feb 12 [updated 2020 Feb 27]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301356 Free Books & Documents. Review.
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
Vermeer FC, Bremer J, Sietsma RJ, Sandilands A, Hickerson RP, Bolling MC, Pasmooij AMG, Lemmink HH, Swertz MA, Knoers NVAM, van der Velde KJ, van den Akker PC. Vermeer FC, et al. Among authors: lemmink hh. Int J Mol Sci. 2021 Nov 12;22(22):12222. doi: 10.3390/ijms222212222. Int J Mol Sci. 2021. PMID: 34830104 Free PMC article. Review.
Hyperkeratotic hand eczema: Eczema or not?
Politiek K, Loman L, Pas HH, Diercks GFH, Lemmink HH, Jan SZ, van den Akker PC, Bolling MC, Schuttelaar MLA. Politiek K, et al. Among authors: lemmink hh. Contact Dermatitis. 2020 Sep;83(3):196-205. doi: 10.1111/cod.13572. Epub 2020 Jun 1. Contact Dermatitis. 2020. PMID: 32333380 Free PMC article.
Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J. Rabin R, et al. Among authors: lemmink hh. Am J Med Genet A. 2020 Sep;182(9):2037-2048. doi: 10.1002/ajmg.a.61724. Epub 2020 Jul 24. Am J Med Genet A. 2020. PMID: 32710489
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Ghorbani F, Alimohamed MZ, Vilacha JF, Van Dijk KK, De Boer-Bergsma J, Fokkens MR, Lemmink H, Sijmons RH, Sikkema-Raddatz B, Groves MR, Verschuuren-Bemelmans CC, Verbeek DS, Van Diemen CC, Westers H. Ghorbani F, et al. Among authors: lemmink h. Front Genet. 2022 Mar 25;13:782685. doi: 10.3389/fgene.2022.782685. eCollection 2022. Front Genet. 2022. PMID: 35401678 Free PMC article.
The aggressive behaviour of squamous cell carcinoma in epidermolysis bullosa: analysis of clinical outcomes and tumour characteristics in the Dutch EB Registry.
Harrs C, van den Akker PC, Baardman R, Duipmans JC, Horváth B, van Kester MS, Lemmink HH, Rácz E, Bolling MC, Diercks GFH. Harrs C, et al. Among authors: lemmink hh. Br J Dermatol. 2022 Nov;187(5):824-826. doi: 10.1111/bjd.21769. Epub 2022 Aug 8. Br J Dermatol. 2022. PMID: 35830206 Free PMC article. No abstract available.
Germline AGO2 mutations impair RNA interference and human neurological development.
Lessel D, Zeitler DM, Reijnders MRF, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan ES, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink HH, Cham BWM, Kovacevic T, Ramsdell L, Foss K, Le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Lüttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, Willemsen M, Gardeitchik T, Löhner K, Rump P, Dias KR, Evans CA, Andrews PI, Roscioli T, Brunner HG, Chijiwa C, Lewis MES, Jamra RA, Dyment DA, Boycott KM, Stegmann APA, Kubisch C, Tan EC, Mirzaa GM, McWalter K, Kleefstra T, Pfundt R, Ignatova Z, Meister G, Kreienkamp HJ. Lessel D, et al. Among authors: lemmink hh. Nat Commun. 2020 Nov 16;11(1):5797. doi: 10.1038/s41467-020-19572-5. Nat Commun. 2020. PMID: 33199684 Free PMC article.
A PLEC Isoform Identified in Skin, Muscle, and Heart.
Gostyńska KB, Lemmink H, Bremer J, Pas HH, Nijenhuis M, van den Akker PC, Sinke RJ, Jonkman MF, Pasmooij AMG. Gostyńska KB, et al. Among authors: lemmink h. J Invest Dermatol. 2017 Feb;137(2):518-522. doi: 10.1016/j.jid.2016.09.032. Epub 2016 Oct 18. J Invest Dermatol. 2017. PMID: 27769846 Free article. No abstract available.
35 results