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Year Number of Results
2002 2
2004 1
2005 1
2009 1
2015 1
2017 2
2019 1
2020 1
2023 1
2024 0

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Page 1
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Accogli A, et al. Among authors: schulz hl. Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13. Genet Med. 2023. PMID: 37454282 Free article.
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Schulz HL, Grassmann F, Kellner U, Spital G, Rüther K, Jägle H, Hufendiek K, Rating P, Huchzermeyer C, Baier MJ, Weber BH, Stöhr H. Schulz HL, et al. Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):394-403. doi: 10.1167/iovs.16-19936. Invest Ophthalmol Vis Sci. 2017. PMID: 28118664 Free PMC article.
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.
Khan M, Cornelis SS, Khan MI, Elmelik D, Manders E, Bakker S, Derks R, Neveling K, van de Vorst M, Gilissen C, Meunier I, Defoort S, Puech B, Devos A, Schulz HL, Stöhr H, Grassmann F, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: schulz hl. Hum Mutat. 2019 Oct;40(10):1749-1759. doi: 10.1002/humu.23787. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31212395
Meta-analysis of genome scans of age-related macular degeneration.
Fisher SA, Abecasis GR, Yashar BM, Zareparsi S, Swaroop A, Iyengar SK, Klein BE, Klein R, Lee KE, Majewski J, Schultz DW, Klein ML, Seddon JM, Santangelo SL, Weeks DE, Conley YP, Mah TS, Schmidt S, Haines JL, Pericak-Vance MA, Gorin MB, Schulz HL, Pardi F, Lewis CM, Weber BH. Fisher SA, et al. Among authors: schulz hl. Hum Mol Genet. 2005 Aug 1;14(15):2257-64. doi: 10.1093/hmg/ddi230. Epub 2005 Jun 29. Hum Mol Genet. 2005. PMID: 15987700
A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).
Grassmann F, Friedrich U, Fauser S, Schick T, Milenkovic A, Schulz HL, von Strachwitz CN, Bettecken T, Lichtner P, Meitinger T, Arend N, Wolf A, Haritoglou C, Rudolph G, Chakravarthy U, Silvestri G, McKay GJ, Freitag-Wolf S, Krawczak M, Smith RT, Merriam JC, Merriam JE, Allikmets R, Heid IM, Weber BH. Grassmann F, et al. Among authors: schulz hl. Neuromolecular Med. 2015 Jun;17(2):111-20. doi: 10.1007/s12017-015-8342-1. Epub 2015 Feb 14. Neuromolecular Med. 2015. PMID: 25680934 Free PMC article.
11 results