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Items: 1 to 50 of 232

1.

Novel HIVEP2 Variants in Patients with Intellectual Disability.

Park J, Colombo R, Schäferhoff K, Janiri L, Grimmel M, Sturm M, Grasshoff U, Dufke A, Haack TB, Kehrer M.

Mol Syndromol. 2019 Jul;10(4):195-201. doi: 10.1159/000499060. Epub 2019 Apr 3.

PMID:
31602191
2.

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.

Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S.

Hum Mutat. 2019 Sep 23. doi: 10.1002/humu.23920. [Epub ahead of print]

PMID:
31544997
3.

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.

Park J, Flores BR, Scherer K, Kuepper H, Rossi M, Rupprich K, Rautenberg M, Deininger N, Weichselbaum A, Grimm A, Sturm M, Grasshoff U, Delpire E, Haack TB.

J Med Genet. 2019 Aug 22. pii: jmedgenet-2019-106273. doi: 10.1136/jmedgenet-2019-106273. [Epub ahead of print]

PMID:
31439721
4.

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.

Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schröck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C.

BMC Cancer. 2019 Aug 8;19(1):787. doi: 10.1186/s12885-019-5946-0.

5.

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.

Park J, Koko M, Hedrich UBS, Hermann A, Cremer K, Haberlandt E, Grimmel M, Alhaddad B, Beck-Woedl S, Harrer M, Karall D, Kingelhoefer L, Tzschach A, Matthies LC, Strom TM, Ringelstein EB, Sturm M, Engels H, Wolff M, Lerche H, Haack TB.

Ann Clin Transl Neurol. 2019 Jul;6(7):1319-1326. doi: 10.1002/acn3.50799. Epub 2019 Jun 7.

6.

Correction to "Identification of Tumor Specific Peptide as EpCAM Ligand and Its Potential Diagnostic and Therapeutic Clinical Application".

Ma X, Kang X, He L, Zhou J, Zhou J, Sturm MB, Beer DG, Kuick R, Nancarrow DJ, Appelman HD, Pang Z, Li W, Zhang C, Zhang W, Zhang Y, Wang TD, Li M.

Mol Pharm. 2019 Aug 5;16(8):3726. doi: 10.1021/acs.molpharmaceut.9b00514. Epub 2019 Jul 16. No abstract available.

PMID:
31310132
7.

[Management of Rib Fractures].

Raab S, Grieser T, Sturm M, Beyer M, Reindl S.

Zentralbl Chir. 2019 Jun;144(3):305-321. doi: 10.1055/a-0774-3401. Epub 2019 Jun 5. German.

PMID:
31167271
8.

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA.

Genet Med. 2019 May 16. doi: 10.1038/s41436-019-0532-z. [Epub ahead of print]

PMID:
31092906
9.

The Influence of Calcium Traces in Ultrapure Water on the Lateral Organization in Tetramyristoyl Cardiolipin Monolayers.

Sturm M, Gutowski O, Brezesinski G.

Chemphyschem. 2019 Jun 4;20(11):1521-1526. doi: 10.1002/cphc.201900126. Epub 2019 May 10.

PMID:
31074586
10.

Multi-omics discovery of exome-derived neoantigens in hepatocellular carcinoma.

Löffler MW, Mohr C, Bichmann L, Freudenmann LK, Walzer M, Schroeder CM, Trautwein N, Hilke FJ, Zinser RS, Mühlenbruch L, Kowalewski DJ, Schuster H, Sturm M, Matthes J, Riess O, Czemmel S, Nahnsen S, Königsrainer I, Thiel K, Nadalin S, Beckert S, Bösmüller H, Fend F, Velic A, Maček B, Haen SP, Buonaguro L, Kohlbacher O, Stevanović S, Königsrainer A; HEPAVAC Consortium, Rammensee HG.

Genome Med. 2019 Apr 30;11(1):28. doi: 10.1186/s13073-019-0636-8.

11.

Identification of Tumor Specific Peptide as EpCAM Ligand and Its Potential Diagnostic and Therapeutic Clinical Application.

Ma X, Kang X, He L, Zhou J, Zhou J, Sturm MB, Beer DG, Kuick R, Nancarrow DJ, Appelman HD, Pang Z, Li W, Zhang C, Zhang W, Zhang Y, Wang TD, Li M.

Mol Pharm. 2019 May 6;16(5):2199-2213. doi: 10.1021/acs.molpharmaceut.9b00185. Epub 2019 Apr 18. Erratum in: Mol Pharm. 2019 Aug 5;16(8):3726.

PMID:
30974945
12.

Implementation of a fast method for the measurement of carnitine palmitoyltransferase 2 activity in lymphocytes by tandem mass spectrometry as confirmation for newborn screening.

Tucci S, Behringer S, Sturm M, Grünert SC, Spiekerkoetter U.

J Inherit Metab Dis. 2019 Sep;42(5):850-856. doi: 10.1002/jimd.12098. Epub 2019 Apr 23.

PMID:
30957255
13.

Screening method for extractable organically bound fluorine (EOF) in river water samples by means of high-resolution-continuum source graphite furnace molecular absorption spectrometry (HR-CS GF MAS).

Metzger M, Ley P, Sturm M, Meermann B.

Anal Bioanal Chem. 2019 Jul;411(19):4647-4660. doi: 10.1007/s00216-019-01698-1. Epub 2019 Mar 8.

PMID:
30848316
14.

Correction: Diatom evidence of 20th century ecosystem change in Lake Baikal, Siberia.

Roberts SL, Swann GEA, McGowan S, Panizzo VN, Vologina EG, Sturm M, Mackay AW.

PLoS One. 2019 Feb 28;14(2):e0213413. doi: 10.1371/journal.pone.0213413. eCollection 2019.

15.

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?

Beck-Wödl S, Harzer K, Sturm M, Buchert R, Rieß O, Mennel HD, Latta E, Pagenstecher A, Keber U.

Acta Neuropathol Commun. 2018 Dec 27;6(1):145. doi: 10.1186/s40478-018-0646-6.

16.

Diatom evidence of 20th century ecosystem change in Lake Baikal, Siberia.

Roberts SL, Swann GEA, McGowan S, Panizzo VN, Vologina EG, Sturm M, Mackay AW.

PLoS One. 2018 Dec 19;13(12):e0208765. doi: 10.1371/journal.pone.0208765. eCollection 2018. Erratum in: PLoS One. 2019 Feb 28;14(2):e0213413.

17.

Loss of NFAT2 expression results in the acceleration of clonal evolution in chronic lymphocytic leukemia.

Müller DJ, Wirths S, Fuchs AR, Märklin M, Heitmann JS, Sturm M, Haap M, Kirschniak A, Sasaki Y, Kanz L, Kopp HG, Müller MR.

J Leukoc Biol. 2019 Mar;105(3):531-538. doi: 10.1002/JLB.2AB0218-076RR. Epub 2018 Dec 17.

PMID:
30556925
18.

Understanding the role of genetic variability in LRRK2 in Indian population.

Kishore A, Ashok Kumar Sreelatha A, Sturm M, von-Zweydorf F, Pihlstrøm L, Raimondi F, Russell R, Lichtner P, Banerjee M, Krishnan S, Rajan R, Puthenveedu DK, Chung SJ; International Parkinson's Disease Genomics Consortium (IPDGC); Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (COURAGE-PD), Bauer P, Riess O, Gloeckner CJ, Kruger R, Gasser T, Sharma M.

Mov Disord. 2019 Apr;34(4):496-505. doi: 10.1002/mds.27558. Epub 2018 Nov 28.

PMID:
30485545
19.

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Penkert J, Schmidt G, Hofmann W, Schubert S, Schieck M, Auber B, Ripperger T, Hackmann K, Sturm M, Prokisch H, Hille-Betz U, Mark D, Illig T, Schlegelberger B, Steinemann D.

Breast Cancer Res. 2018 Aug 7;20(1):87. doi: 10.1186/s13058-018-1011-1.

20.

Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization.

Lu Y, Ren X, Wang Y, Bardai G, Sturm M, Dai Y, Riess O, Zhang Y, Li H, Li T, Zhai N, Zhang J, Rauch F, Han J.

Bone. 2018 Sep;114:144-149. doi: 10.1016/j.bone.2018.06.018. Epub 2018 Jun 20.

PMID:
29935254
21.

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.

Laugwitz L, Redler S, Buchert R, Sturm M, Zeile I, Schara U, Wieczorek D, Haack T, Distelmaier F.

Klin Padiatr. 2018 Sep;230(5):281-283. doi: 10.1055/a-0605-3659. Epub 2018 Jun 18. No abstract available.

PMID:
29913539
22.

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

Fritzen D, Kuechler A, Grimmel M, Becker J, Peters S, Sturm M, Hundertmark H, Schmidt A, Kreiß M, Strom TM, Wieczorek D, Haack TB, Beck-Wödl S, Cremer K, Engels H.

Hum Genet. 2018 May;137(5):401-411. doi: 10.1007/s00439-018-1892-1. Epub 2018 May 23.

PMID:
29796876
23.

Endoscopic imaging techniques: beyond narrow band.

Sturm MB, Wang TD.

Am J Gastroenterol. 2018 Aug;113(8):1103-1107. doi: 10.1038/s41395-018-0054-3. No abstract available.

PMID:
29748560
24.

A new approach for the agglomeration and subsequent removal of polyethylene, polypropylene, and mixtures of both from freshwater systems - a case study.

Herbort AF, Sturm MT, Schuhen K.

Environ Sci Pollut Res Int. 2018 May;25(15):15226-15234. doi: 10.1007/s11356-018-1981-7. Epub 2018 Apr 19.

PMID:
29675819
25.

Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.

Scholz C, Golas MM, Weber RG, Hartmann C, Lehmann U, Sahm F, Schmidt G, Auber B, Sturm M, Schlegelberger B, Illig T, Steinemann D, Hofmann W.

Clin Genet. 2018 Jul;94(1):185-186. doi: 10.1111/cge.13216. Epub 2018 Mar 2.

PMID:
29498415
26.

Mesenchymal stromal cell infusion modulates systemic immunological responses in stable COPD patients: a phase I pilot study.

Armitage J, Tan DBA, Troedson R, Young P, Lam KV, Shaw K, Sturm M, Weiss DJ, Moodley YP.

Eur Respir J. 2018 Mar 1;51(3). pii: 1702369. doi: 10.1183/13993003.02369-2017. Print 2018 Mar. No abstract available.

27.

Interdependent action of KH domain proteins Krr1 and Dim2 drive the 40S platform assembly.

Sturm M, Cheng J, Baßler J, Beckmann R, Hurt E.

Nat Commun. 2017 Dec 20;8(1):2213. doi: 10.1038/s41467-017-02199-4.

28.

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG.

Am J Hum Genet. 2017 Dec 7;101(6):985-994. doi: 10.1016/j.ajhg.2017.10.006. Epub 2017 Nov 30.

29.

Cellular Immunotherapy for Hematologic Malignancies: Beyond Bone Marrow Transplantation.

Cirillo M, Tan P, Sturm M, Cole C.

Biol Blood Marrow Transplant. 2018 Mar;24(3):433-442. doi: 10.1016/j.bbmt.2017.10.035. Epub 2017 Nov 26. Review.

30.

Similarity based hierarchical clustering of physiological parameters for the identification of health states - a feasibility study.

Schrumpf F, Bausch G, Sturm M, Fuchs M.

Conf Proc IEEE Eng Med Biol Soc. 2017 Jul;2017:458-462. doi: 10.1109/EMBC.2017.8036861.

PMID:
29059909
31.

High-resolution continuum source graphite furnace molecular absorption spectrometry compared with ion chromatography for quantitative determination of dissolved fluoride in river water samples.

Ley P, Sturm M, Ternes TA, Meermann B.

Anal Bioanal Chem. 2017 Dec;409(30):6949-6958. doi: 10.1007/s00216-017-0647-5. Epub 2017 Oct 3.

PMID:
28975375
32.

A Pulse of Mercury and Major Ions in Snowmelt Runoff from a Small Arctic Alaska Watershed.

Douglas TA, Sturm M, Blum JD, Polashenski C, Stuefer S, Hiemstra C, Steffen A, Filhol S, Prevost R.

Environ Sci Technol. 2017 Oct 3;51(19):11145-11155. doi: 10.1021/acs.est.7b03683. Epub 2017 Sep 20.

PMID:
28851224
33.

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.

Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T.

Neurology. 2017 Sep 5;89(10):1043-1049. doi: 10.1212/WNL.0000000000004311. Epub 2017 Aug 9.

PMID:
28794257
34.

Understanding the Enhanced Magnetic Response of Aminocholesterol Doped Lanthanide-Ion-Chelating Phospholipid Bicelles.

Isabettini S, Massabni S, Kohlbrecher J, Schuler LD, Walde P, Sturm M, Windhab EJ, Fischer P, Kuster S.

Langmuir. 2017 Aug 29;33(34):8533-8544. doi: 10.1021/acs.langmuir.7b01370. Epub 2017 Aug 16.

PMID:
28759249
35.

The haemodynamic effect of an adjustable band in an arteriovenous fistula.

Sturm M, Lee H, Thomas S, Barber T.

Comput Methods Biomech Biomed Engin. 2017 Jul;20(9):949-957. doi: 10.1080/10255842.2017.1315635. Epub 2017 May 17.

PMID:
28513192
36.

Cranial reconstruction using allogeneic mesenchymal stromal cells: A phase 1 first-in-human trial.

Morrison DA, Kop AM, Nilasaroya A, Sturm M, Shaw K, Honeybul S.

J Tissue Eng Regen Med. 2018 Feb;12(2):341-348. doi: 10.1002/term.2459. Epub 2017 Aug 23.

PMID:
28488350
37.

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.

Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Erratum in: Brain. 2017 Dec 9;:.

38.

Porewater salinity reveals past lake-level changes in Lake Van, the Earth's largest soda lake.

Tomonaga Y, Brennwald MS, Livingstone DM, Kwiecien O, Randlett MÈ, Stockhecke M, Unwin K, Anselmetti FS, Beer J, Haug GH, Schubert CJ, Sturm M, Kipfer R.

Sci Rep. 2017 Mar 22;7(1):313. doi: 10.1038/s41598-017-00371-w.

39.

Mesenchymal Stromal Cell Therapy for Chronic Lung Allograft Dysfunction: Results of a First-in-Man Study.

Chambers DC, Enever D, Lawrence S, Sturm MJ, Herrmann R, Yerkovich S, Musk M, Hopkins PM.

Stem Cells Transl Med. 2017 Apr;6(4):1152-1157. doi: 10.1002/sctm.16-0372. Epub 2017 Feb 1.

40.

A comprehensive quality control workflow for paired tumor-normal NGS experiments.

Schroeder CM, Hilke FJ, Löffler MW, Bitzer M, Lenz F, Sturm M.

Bioinformatics. 2017 Jun 1;33(11):1721-1722. doi: 10.1093/bioinformatics/btx032.

PMID:
28130233
41.

Erratum to "Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient".

Löffler MW, Chandran PA, Laske K, Schroeder C, Bonzheim I, Walzer M, Hilke FJ, Trautwein N, Kowalewski DJ, Schuster H, Günder M, Carcamo Yañez VA, Mohr C, Sturm M, Nguyen HP, Riess O, Bauer P, Nahnsen S, Nadalin S, Zieker D, Glatzle J, Thiel K, Schneiderhan-Marra N, Clasen S, Bösmüller H, Fend F, Kohlbacher O, Gouttefangeas C, Stevanović S, Königsrainer A, Rammensee HG.

J Hepatol. 2017 Jan;66(1):252-253. doi: 10.1016/j.jhep.2016.10.021. Epub 2016 Nov 15. No abstract available.

PMID:
27863814
42.

Guidelines for diagnostic next-generation sequencing.

Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, Race V, Sistermans E, Sturm M, Weiss M, Yntema H, Bakker E, Scheffer H, Bauer P.

Eur J Hum Genet. 2016 Oct;24(10):1515. doi: 10.1038/ejhg.2016.63. No abstract available.

43.

Personalized peptide vaccine-induced immune response associated with long-term survival of a metastatic cholangiocarcinoma patient.

Löffler MW, Chandran PA, Laske K, Schroeder C, Bonzheim I, Walzer M, Hilke FJ, Trautwein N, Kowalewski DJ, Schuster H, Günder M, Carcamo Yañez VA, Mohr C, Sturm M, Nguyen HP, Riess O, Bauer P, Nahnsen S, Nadalin S, Zieker D, Glatzle J, Thiel K, Schneiderhan-Marra N, Clasen S, Bösmüller H, Fend F, Kohlbacher O, Gouttefangeas C, Stevanović S, Königsrainer A, Rammensee HG.

J Hepatol. 2016 Oct;65(4):849-855. doi: 10.1016/j.jhep.2016.06.027. Epub 2016 Jul 7. Erratum in: J Hepatol. 2017 Jan;66(1):252-253.

44.

Iron Deficiency without Anemia: A Common Yet Under-Recognized Diagnosis in Young Women with Heavy Menstrual Bleeding.

Johnson S, Lang A, Sturm M, O'Brien SH.

J Pediatr Adolesc Gynecol. 2016 Dec;29(6):628-631. doi: 10.1016/j.jpag.2016.05.009. Epub 2016 Jun 1.

PMID:
27262832
45.

Optimized Chemical Separation and Measurement by TE TIMS Using Carburized Filaments for Uranium Isotope Ratio Measurements Applied to Plutonium Chronometry.

Sturm M, Richter S, Aregbe Y, Wellum R, Prohaska T.

Anal Chem. 2016 Jun 21;88(12):6223-30. doi: 10.1021/acs.analchem.5b03852. Epub 2016 Jun 10.

PMID:
27240571
46.

Human mesenchymal stem cells attenuate early damage in a ventilated pig model of acute lung injury.

Moodley Y, Sturm M, Shaw K, Shimbori C, Tan DB, Kolb M, Graham R.

Stem Cell Res. 2016 Jul;17(1):25-31. doi: 10.1016/j.scr.2016.05.005. Epub 2016 May 12.

47.

SeqPurge: highly-sensitive adapter trimming for paired-end NGS data.

Sturm M, Schroeder C, Bauer P.

BMC Bioinformatics. 2016 May 10;17:208. doi: 10.1186/s12859-016-1069-7.

48.

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schöls L, Schüle R, de Jonghe P, Anheim M, Taroni F, Bauer P.

Brain. 2016 May;139(Pt 5):1378-93. doi: 10.1093/brain/aww079. Epub 2016 Apr 17.

49.

The Effects of Hospital Length of Stay on Readmissions for Children With Newly Diagnosed Acute Lymphoblastic Leukemia.

Wedekind MF, Dennis R, Sturm M, Koch T, Stanek J, O'Brien SH.

J Pediatr Hematol Oncol. 2016 Jul;38(5):329-33. doi: 10.1097/MPH.0000000000000559.

PMID:
26989914
50.

Factors associated with thrombosis in pediatric patients with systemic lupus erythematosus.

Driest KD, Sturm MS, O'Brien SH, Spencer CH, Stanek JR, Ardoin SP; CARRA Registry Investigators.

Lupus. 2016 Jun;25(7):749-53. doi: 10.1177/0961203316638164. Epub 2016 Mar 14.

PMID:
26980741

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