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Items: 1 to 50 of 504

1.

Advanced optimum contribution selection as a tool to improve regional cattle breeds: a feasibility study for Vorderwald cattle.

Kohl S, Wellmann R, Herold P.

Animal. 2019 Jul 12:1-12. doi: 10.1017/S1751731119001484. [Epub ahead of print]

PMID:
31296274
2.

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.

Stingl K, Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Kohl S, Bonnet C, Mohand-Saïd S, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Sahel JA, Zrenner E.

Doc Ophthalmol. 2019 Jul 2. doi: 10.1007/s10633-019-09704-8. [Epub ahead of print]

PMID:
31267413
3.

Characterization of Retinal Structure in ATF6-Associated Achromatopsia.

Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J.

Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2631-2640. doi: 10.1167/iovs.19-27047.

4.

What do we know about travel for children with special health care needs? A review of the literature.

Kohl SE, Barnett ED.

Travel Med Infect Dis. 2019 Jun 21. pii: S1477-8939(18)30409-5. doi: 10.1016/j.tmaid.2019.06.009. [Epub ahead of print] Review.

PMID:
31233860
5.

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.

Kitzler TM, Schneider R, Kohl S, Kolvenbach CM, Connaughton DM, Dai R, Mann N, Nakayama M, Majmundar AJ, Wu CW, Kari JA, El Desoky SM, Senguttuvan P, Bogdanovic R, Stajic N, Valivullah Z, Lek M, Mane S, Lifton RP, Tasic V, Shril S, Hildebrandt F.

Hum Genet. 2019 Jun 22. doi: 10.1007/s00439-019-02042-4. [Epub ahead of print]

PMID:
31230195
6.

Bye-bye 2018, hello 2019.

Kohl S.

Eur J Hosp Pharm Sci Pract. 2019 Mar;26(2):121-122. doi: 10.1136/ejhpharm-2019-001884. Epub 2019 Feb 21. No abstract available.

PMID:
31157113
7.

European advances in the field of ePrescriptions.

Kohl S.

Eur J Hosp Pharm Sci Pract. 2019 Mar;26(2):119-120. doi: 10.1136/ejhpharm-2019-001883. Epub 2019 Feb 21. No abstract available.

PMID:
31157112
8.

Biosimilar medicines.

Süle A, Jørgensen F, Horák P, Peppard J, Kohl S.

Eur J Hosp Pharm Sci Pract. 2019 Mar;26(2):117-118. doi: 10.1136/ejhpharm-2018-001821. Epub 2019 Feb 21.

PMID:
31157111
9.

eHealth and mHealth.

Moss RJ, Süle A, Kohl S.

Eur J Hosp Pharm Sci Pract. 2019 Jan;26(1):57-58. doi: 10.1136/ejhpharm-2018-001819. Epub 2018 Dec 21.

PMID:
31157099
10.

2018 EAHP survey results: the medicines shortages problem continues to persist.

Kohl S.

Eur J Hosp Pharm Sci Pract. 2019 Jan;26(1):54-55. doi: 10.1136/ejhpharm-2018-001830. Epub 2018 Dec 21. No abstract available.

PMID:
31157097
11.

Vaccine confidence and vaccination delivery in the European Union.

Kohl S.

Eur J Hosp Pharm Sci Pract. 2019 Jan;26(1):51-54. doi: 10.1136/ejhpharm-2018-001829. Epub 2018 Dec 21. No abstract available.

PMID:
31157096
12.

Exclusive preview of the #EAHP2019 Synergy Satellite programme.

Kohl S.

Eur J Hosp Pharm Sci Pract. 2018 Nov;25(6):342-343. doi: 10.1136/ejhpharm-2018-001768. Epub 2018 Oct 25. No abstract available.

PMID:
31157056
13.

FIP-analysis predicts growth of pharmacy workforce.

Kohl S.

Eur J Hosp Pharm Sci Pract. 2018 Nov;25(6):340-341. doi: 10.1136/ejhpharm-2018-001767. Epub 2018 Oct 25. No abstract available.

PMID:
31157055
14.

Hospital pharmacist's role in procurement ensuring that every patient receives the medication they need.

Kohl S.

Eur J Hosp Pharm Sci Pract. 2018 Sep;25(5):289. doi: 10.1136/ejhpharm-2018-001691. Epub 2018 Aug 27. No abstract available.

PMID:
31157042
15.

OECD-delivering quality health services: a global imperative.

Kohl S.

Eur J Hosp Pharm Sci Pract. 2018 Sep;25(5):286-288. doi: 10.1136/ejhpharm-2018-001692. Epub 2018 Aug 27. No abstract available.

PMID:
31157041
16.

2017 EAHP Statements survey results are online.

Kohl S.

Eur J Hosp Pharm Sci Pract. 2018 Jul;25(4):231-232. doi: 10.1136/ejhpharm-2018-001635. Epub 2018 Jun 28. No abstract available.

17.

Commission: communication on the future of digital health.

Kohl S.

Eur J Hosp Pharm Sci Pract. 2018 Jul;25(4):228-230. doi: 10.1136/ejhpharm-2018-001634. Epub 2018 Jun 28. No abstract available.

18.

EAHP releases medicines shortage survey to improve patient outcomes.

Kohl S.

Eur J Hosp Pharm Sci Pract. 2018 May;25(3):173-174. doi: 10.1136/ejhpharm-2018-001586. Epub 2018 Apr 25. No abstract available.

19.

European Directorate for the Quality of Medicines: automatic drugs dispensing report.

Kohl S.

Eur J Hosp Pharm Sci Pract. 2018 May;25(3):169-172. doi: 10.1136/ejhpharm-2018-001585. Epub 2018 Apr 25. No abstract available.

20.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S.

Hum Mutat. 2019 May 6. doi: 10.1002/humu.23768. [Epub ahead of print]

PMID:
31058429
21.

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.

Mayer AK, Mahajnah M, Thomas MG, Cohen Y, Habib A, Schulze M, Maconachie GDE, AlMoallem B, De Baere E, Lorenz B, Traboulsi EI, Kohl S, Azem A, Bauer P, Gottlob I, Sharkia R, Wissinger B.

Brain. 2019 Jun 1;142(6):1528-1534. doi: 10.1093/brain/awz098.

PMID:
31009037
22.

A case of X-linked retinoschisis with atypical fundus appearance.

Nasser F, Kohl S, Kuehlewein L, Wissinger B, Obermaier CD, Kurtenbach A, Zrenner E.

Doc Ophthalmol. 2019 Aug;139(1):75-81. doi: 10.1007/s10633-019-09698-3. Epub 2019 Apr 20.

PMID:
31006083
23.

Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness.

Schatz A, Kelbsch C, Zeitz C, Kohl S, Zrenner E, Gekeler F, Wilhelm H, Wilhelm B, Willmann G.

Graefes Arch Clin Exp Ophthalmol. 2019 Jun;257(6):1207-1215. doi: 10.1007/s00417-019-04319-w. Epub 2019 Apr 13.

PMID:
30982101
24.

Retinal dystrophies with bull's-eye maculopathy along with negative ERGs.

Nasser F, Kurtenbach A, Kohl S, Obermaier C, Stingl K, Zrenner E.

Doc Ophthalmol. 2019 Aug;139(1):45-57. doi: 10.1007/s10633-019-09694-7. Epub 2019 Apr 3.

PMID:
30945053
25.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I.

Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28.

PMID:
30825406
26.

Real-time fMRI neurofeedback training to improve eating behavior by self-regulation of the dorsolateral prefrontal cortex: A randomized controlled trial in overweight and obese subjects.

Kohl SH, Veit R, Spetter MS, Günther A, Rina A, Lührs M, Birbaumer N, Preissl H, Hallschmid M.

Neuroimage. 2019 May 1;191:596-609. doi: 10.1016/j.neuroimage.2019.02.033. Epub 2019 Feb 21.

PMID:
30798010
27.

Connectivity Profile Predictive of Effective Deep Brain Stimulation in Obsessive-Compulsive Disorder.

Baldermann JC, Melzer C, Zapf A, Kohl S, Timmermann L, Tittgemeyer M, Huys D, Visser-Vandewalle V, Kühn AA, Horn A, Kuhn J.

Biol Psychiatry. 2019 May 1;85(9):735-743. doi: 10.1016/j.biopsych.2018.12.019. Epub 2019 Jan 9.

PMID:
30777287
28.

Open-label trial of anterior limb of internal capsule-nucleus accumbens deep brain stimulation for obsessive-compulsive disorder: insights gained.

Huys D, Kohl S, Baldermann JC, Timmermann L, Sturm V, Visser-Vandewalle V, Kuhn J.

J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):805-812. doi: 10.1136/jnnp-2018-318996. Epub 2019 Feb 15.

PMID:
30770458
29.

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E.

Genet Med. 2019 Jan 23. doi: 10.1038/s41436-018-0420-y. [Epub ahead of print]

PMID:
30670881
30.

Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.

Kuehlewein L, Schöls L, Llavona P, Grimm A, Biskup S, Zrenner E, Kohl S.

Graefes Arch Clin Exp Ophthalmol. 2019 Mar;257(3):629-638. doi: 10.1007/s00417-018-04233-7. Epub 2019 Jan 17.

PMID:
30656474
31.

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

Weisschuh N, Feldhaus B, Khan MI, Cremers FPM, Kohl S, Wissinger B, Zobor D.

PLoS One. 2018 Dec 21;13(12):e0205380. doi: 10.1371/journal.pone.0205380. eCollection 2018.

32.

Macular sensitivity in patients with congenital stationary night-blindness.

William A, Kohl S, Zeitz C, Willmann G, Zrenner E, Bartz-Schmidt KU, Gekeler F, Schatz A.

Br J Ophthalmol. 2018 Dec 20. pii: bjophthalmol-2018-313072. doi: 10.1136/bjophthalmol-2018-313072. [Epub ahead of print]

PMID:
30573500
33.

Changing landscape of digital communication in travel medicine.

Kohl SE, Van Tilburg C, Flaherty GT.

J Travel Med. 2019 Jan 1;26(1). doi: 10.1093/jtm/tay145. No abstract available.

PMID:
30535106
34.

Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations.

Sumaroka A, Garafalo AV, Cideciyan AV, Charng J, Roman AJ, Choi W, Saxena S, Aksianiuk V, Kohl S, Wissinger B, Jacobson SG.

Invest Ophthalmol Vis Sci. 2018 Dec 3;59(15):5762-5772. doi: 10.1167/iovs.18-25280.

PMID:
30516820
35.

Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.

Burkard M, Kohl S, Krätzig T, Tanimoto N, Brennenstuhl C, Bausch AE, Junger K, Reuter P, Sothilingam V, Beck SC, Huber G, Ding XQ, Mayer AK, Baumann B, Weisschuh N, Zobor D, Hahn GA, Kellner U, Venturelli S, Becirovic E, Charbel Issa P, Koenekoop RK, Rudolph G, Heckenlively J, Sieving P, Weleber RG, Hamel C, Zong X, Biel M, Lukowski R, Seeliger MW, Michalakis S, Wissinger B, Ruth P.

J Clin Invest. 2018 Dec 3;128(12):5663-5675. doi: 10.1172/JCI96098. Epub 2018 Nov 12.

36.

Periprosthetic Infection: Major Cause of Early Failure of Primary and Revision Total Knee Arthroplasty.

Evangelopoulos DS, Ahmad SS, Krismer AM, Albers CE, Hoppe S, Kleer B, Kohl S, Ateschrang A.

J Knee Surg. 2018 Oct 18. doi: 10.1055/s-0038-1672203. [Epub ahead of print]

PMID:
30336501
37.

Improved results of ACL primary repair in one-part tears with intact synovial coverage.

Ateschrang A, Schreiner AJ, Ahmad SS, Schröter S, Hirschmann MT, Körner D, Kohl S, Stöckle U, Ahrend MD.

Knee Surg Sports Traumatol Arthrosc. 2019 Jan;27(1):37-43. doi: 10.1007/s00167-018-5199-5. Epub 2018 Oct 8.

PMID:
30298414
38.

Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.

Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Mayer AK, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP; CNV Study Group, De Baere E.

Genet Med. 2018 Oct 8. doi: 10.1038/s41436-018-0305-0. [Epub ahead of print]

PMID:
30297699
39.

Range of motion, postoperative rehabilitation and patient satisfaction in MCP and PIP joints affected by Dupuytren Tubiana stage 1-3: collagenase enzymatic fasciotomy or limited fasciectomy? A clinical study in 52 patients.

Leclère FM, Kohl S, Varonier C, Unglaub F, Vögelin E.

Arch Orthop Trauma Surg. 2018 Nov;138(11):1623-1631. doi: 10.1007/s00402-018-3034-6. Epub 2018 Sep 26.

PMID:
30259125
40.

Achromatopsia.

Kohl S, Jägle H, Wissinger B, Zobor D.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2004 Jun 24 [updated 2018 Sep 20].

41.

Development of Methodology and Study Protocol: Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients with CNGA3-Linked Achromatopsia Investigated in an Exploratory Dose-Escalation Trial.

Kahle NA, Peters T, Zobor D, Kuehlewein L, Kohl S, Zhour A, Werner A, Seitz IP, Sothilingam V, Michalakis S, Biel M, Ueffing M, Zrenner E, Bartz-Schmidt KU, Fischer MD, Wilhelm BJC.

Hum Gene Ther Clin Dev. 2018 Sep;29(3):121-131. doi: 10.1089/humc.2018.088.

PMID:
30187779
42.

An Explorative Note on Apraxia Tests.

Gulde P, Leippold K, Armstrong A, Kohl S, Grimmer T, Diehl-Schmid J, Hermsdörfer J.

Front Neurol. 2018 Aug 8;9:660. doi: 10.3389/fneur.2018.00660. eCollection 2018.

43.

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S.

Hum Mutat. 2018 Oct;39(10):1366-1371. doi: 10.1002/humu.23606. Epub 2018 Aug 22.

PMID:
30080950
44.

Radiomic Machine Learning for Characterization of Prostate Lesions with MRI: Comparison to ADC Values.

Bonekamp D, Kohl S, Wiesenfarth M, Schelb P, Radtke JP, Götz M, Kickingereder P, Yaqubi K, Hitthaler B, Gählert N, Kuder TA, Deister F, Freitag M, Hohenfellner M, Hadaschik BA, Schlemmer HP, Maier-Hein KH.

Radiology. 2018 Oct;289(1):128-137. doi: 10.1148/radiol.2018173064. Epub 2018 Jul 31.

PMID:
30063191
45.

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.

Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S.

Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):3041-3052. doi: 10.1167/iovs.18-24033.

PMID:
30025130
46.

Usher Syndrome and Color Vision.

Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Stingl K, Kohl S, Bonnet C, Mohand-Saïd S, Sliesoraityte I, Sahel JA, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Zrenner E.

Curr Eye Res. 2018 Oct;43(10):1295-1301. doi: 10.1080/02713683.2018.1501804. Epub 2018 Jul 30.

PMID:
30012035
47.

A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.

Buena-Atienza E, Nasser F, Kohl S, Wissinger B.

BMC Med Genet. 2018 Jun 26;19(1):107. doi: 10.1186/s12881-018-0623-8.

48.

Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.

Charbel Issa P, Reuter P, Kühlewein L, Birtel J, Gliem M, Tropitzsch A, Whitcroft KL, Bolz HJ, Ishihara K, MacLaren RE, Downes SM, Oishi A, Zrenner E, Kohl S, Hummel T.

JAMA Ophthalmol. 2018 Jul 1;136(7):761-769. doi: 10.1001/jamaophthalmol.2018.1621.

49.

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR.

Mol Vis. 2018 Apr 26;24:326-339. eCollection 2018.

50.

Cortical Paired Associative Stimulation Influences Response Inhibition: Cortico-cortical and Cortico-subcortical Networks.

Kohl S, Hannah R, Rocchi L, Nord CL, Rothwell J, Voon V.

Biol Psychiatry. 2019 Feb 15;85(4):355-363. doi: 10.1016/j.biopsych.2018.03.009. Epub 2018 Apr 3.

PMID:
29724490

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