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Year Number of Results
1987 1
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1993 1
1994 3
1995 2
1996 3
1997 2
1998 2
1999 1
2000 2
2001 2
2004 1
2005 2
2007 1
2008 3
2009 1
2010 3
2011 3
2012 1
2013 2
2014 1
2015 1
2016 1
2017 3
2018 3
2019 2
2020 6
2021 4
2022 2
2023 1
2024 1

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58 results

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Page 1
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
The clinical spectrum of type IV collagen mutations.
Lemmink HH, Schröder CH, Monnens LA, Smeets HJ. Lemmink HH, et al. Hum Mutat. 1997;9(6):477-99. doi: 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9195222 Review.
Hereditary disorders of the glomerular basement membrane.
Smeets HJ, Knoers VV, van de Heuvel LP, Lemmink HH, Schröder CH, Monnens LA. Smeets HJ, et al. Among authors: lemmink hh. Pediatr Nephrol. 1996 Dec;10(6):779-88. doi: 10.1007/s004670050217. Pediatr Nephrol. 1996. PMID: 8971907 Review.
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.
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.
Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene.
Clabbers JMK, Bolling MC, Burms C, Vreeburg M, Lemmink HH, van den Akker PC, Steijlen PM, van Geel M, Gostyński AH. Clabbers JMK, et al. Among authors: lemmink hh. J Eur Acad Dermatol Venereol. 2023 Apr;37(4):e486-e490. doi: 10.1111/jdv.18699. Epub 2022 Nov 7. J Eur Acad Dermatol Venereol. 2023. PMID: 36308042 No abstract available.
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.
Deciduous Teeth as an Alternative DNA Source for Postmortem Genetic Testing.
Te Rijdt WP, Mieremet RHP, Kraaijenbrink T, Regieli JJ, Lemmink HH, Jan SZ, de Knijff P, Hoedemaekers YM. Te Rijdt WP, et al. Among authors: lemmink hh. Circ Genom Precis Med. 2020 Apr;13(2):e002674. doi: 10.1161/CIRCGEN.119.002674. Epub 2020 Jan 31. Circ Genom Precis Med. 2020. PMID: 32003586 No abstract available.
58 results