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International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article. Review.
Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients.
Juriaans AF, Kerkhof GF, Mahabier EF, Sas TCJ, Zwaveling-Soonawala N, Touwslager RNH, Rotteveel J, Hokken-Koelega ACS. Juriaans AF, et al. J Clin Med. 2022 Oct 25;11(21):6289. doi: 10.3390/jcm11216289. J Clin Med. 2022. PMID: 36362517 Free PMC article.
BACKGROUND: Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of the MEG3-DMR. ...
BACKGROUND: Temple syndrome (TS14) is an imprinting disorder caused by a maternal uniparental disomy of chromosome 14 (UPD(14)mat), p …
Redefining Clostridioides difficile infection antibiotic response and clinical outcomes.
Gonzales-Luna AJ, Skinner AM, Alonso CD, Bouza E, Cornely OA, de Meij TGJ, Drew RJ, Garey KW, Gerding DN, Johnson S, Kahn SA, Kato H, Kelly CP, Kelly CR, Kociolek LK, Kuijper EJ, Louie T, Riley TV, Sandora TJ, Vehreschild MJGT, Wilcox MH, Dubberke ER; EXPAND Cdiff group. Gonzales-Luna AJ, et al. Lancet Infect Dis. 2023 Jul;23(7):e259-e265. doi: 10.1016/S1473-3099(23)00047-6. Epub 2023 Apr 14. Lancet Infect Dis. 2023. PMID: 37062301 Review.
The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.
Juriaans AF, Trueba-Timmermans DJ, Kerkhof GF, Grootjen LN, Walet S, Sas TCJ, Rotteveel J, Zwaveling-Soonawala N, Verrijn Stuart AA, Hokken-Koelega ACS. Juriaans AF, et al. Horm Res Paediatr. 2023;96(5):483-494. doi: 10.1159/000530420. Epub 2023 Mar 28. Horm Res Paediatr. 2023. PMID: 36977395
INTRODUCTION: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of chromosome 14, paternal deletion of 14q32.2, or an isolated methylation defect. ...
INTRODUCTION: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of chromosome 14, paternal d …
How to: Clostridioides difficile infection in children.
Krutova M, de Meij TGJ, Fitzpatrick F, Drew RJ, Wilcox MH, Kuijper EJ. Krutova M, et al. Clin Microbiol Infect. 2022 Aug;28(8):1085-1090. doi: 10.1016/j.cmi.2022.03.001. Epub 2022 Mar 10. Clin Microbiol Infect. 2022. PMID: 35283312 Review.
Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
Shay JW, Homma N, Zhou R, Naseer MI, Chaudhary AG, Al-Qahtani M, Hirokawa N, Goudarzi M, Fornace AJ Jr, Baeesa S, Hussain D, Bangash M, Alghamdi F, Schulten HJ, Carracedo A, Khan I, Qashqari H, Madkhali N, Saka M, Saini KS, Jamal A, Al-Maghrabi J, Abuzenadah A, Chaudhary A, Al Qahtani M, Damanhouri G, Alkhatabi H, Goodeve A, Crookes L, Niksic N, Beauchamp N, Abuzenadah AM, Vaught J, Budowle B, Assidi M, Buhmeida A, Al-Maghrabi J, Buhmeida A, Assidi M, Merdad L, Kumar S, Miura S, Gomez K, Carracedo A, Rasool M, Rebai A, Karim S, Eldin HFN, Abusamra H, Alhathli EM, Salem N, Al-Qahtani MH, Kumar S, Faheem H, Agarwa A, Nieschlag E, Wistuba J, Damm OS, Beg MA, Abdel-Meguid TA, Mosli HA, Bajouh OS, Abuzenadah AM, Al-Qahtani MH, Coskun S, Abu-Elmagd M, Buhmeida A, Dallol A, Al-Maghrabi J, Hakamy S, Al-Qahtani W, Al-Harbi A, Hussain S, Assidi M, Al-Qahtani M, Abuzenadah A, Ozkosem B, DuBois R, Messaoudi SS, Dandana MT, Mahjoub T, Almawi WY, Abdalla S, Al-Aama MN, Elzawahry A, Takahashi T, Mimaki S, Furukawa E, Nakatsuka R, Kurosaka I, Nishigaki T, Nakamura H, Serada S, Naka T, Hirota S, Shibata T, Tsuchihara K, Nishida T, Kato M, Mehmood S, Ashraf NM, Asif A, Bilal M, Mehmood MS, Hussain … See abstract for full author list ➔ Shay JW, et al. BMC Genomics. 2016 Jul 20;17 Suppl 6(Suppl 6):487. doi: 10.1186/s12864-016-2858-0. BMC Genomics. 2016. PMID: 27454254 Free PMC article.
Al-Halbosiy, Rghad Kadhim Al lihabi, Basim Mohammed Khashman P20 Etanercept, a TNF-alpha inhibitor, alleviates mechanical hypersensitivity and spontaneous pain in a rat model of chemotherapy-induced neuropathic pain Djouhri, Laiche, Chaudhary Adeel, Nedjadi, Taoufik P21 Sleeping …
Al-Halbosiy, Rghad Kadhim Al lihabi, Basim Mohammed Khashman P20 Etanercept, a TNF-alpha inhibitor, alleviates mechanical hypersensitivity a …
Galactokinase deficiency: lessons from the GalNet registry.
Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT. Rubio-Gozalbo ME, et al. Genet Med. 2021 Jan;23(1):202-210. doi: 10.1038/s41436-020-00942-9. Epub 2020 Aug 18. Genet Med. 2021. PMID: 32807972 Free PMC article.
Training in minimally invasive surgery: experience of paediatric surgery trainees in Europe.
Markel M, Lacher M, Hall NJ, Martynov I, Siles Hinojosa A, de Augustin Asensio JC, Fortmann C, Hukkinen M, Mutanen A, Ford K, Glenisson M, Bonnard A, Dimitrios G, Zavras N, Malowiecka M, Patkowski D, Zambaiti E, Pelizzo G, Salo M, Wester T, Hoel AT, Bjornland K, Arni D, Wildhaber BE, Karagöz A, Topuzlu Tekant G, Barroso C, Correia-Pinto J, Gorter R, van Heurn E, Reusens H, Steyaert H, Dagilyte R, Strumila A, Arneitz C, Till H, Dotlaci V, Rygl M, Jukic M, Pogorelic Z, Enache T, Balanescu L, Cascio S, Zani A, Pio L. Markel M, et al. Br J Surg. 2023 Sep 6;110(10):1397-1399. doi: 10.1093/bjs/znad245. Br J Surg. 2023. PMID: 37527435 No abstract available.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
24 results