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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2007 2
2008 1
2009 2
2010 2
2012 3
2013 4
2014 2
2015 6
2016 3
2017 1
2019 5
2020 4
2021 3
2022 1
2023 2

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Page 1
Ein ungewöhnlicher Verlauf von Incontinentia pigmenti.
Sigl J, Vodopiutz J, Tanew A, Radakovic S. Sigl J, et al. Among authors: vodopiutz j. J Dtsch Dermatol Ges. 2020 Feb;18(2):133-135. doi: 10.1111/ddg.13998_g. J Dtsch Dermatol Ges. 2020. PMID: 32026646 German. No abstract available.
An unusual presentation of incontinentia pigmenti.
Sigl J, Vodopiutz J, Tanew A, Radakovic S. Sigl J, et al. Among authors: vodopiutz j. J Dtsch Dermatol Ges. 2020 Feb;18(2):133-135. doi: 10.1111/ddg.13998. Epub 2019 Dec 25. J Dtsch Dermatol Ges. 2020. PMID: 31876076 No abstract available.
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS. Steenweg ME, et al. Among authors: vodopiutz j. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Hum Mutat. 2010. PMID: 20052767 Review.
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
Waich S, Roscher A, Brunner-Krainz M, Cortina G, Köstl G, Feichtinger RG, Entenmann A, Müller T, Knisely AS, Mayr JA, Janecke AR, Vodopiutz J. Waich S, et al. Among authors: vodopiutz j. J Pediatr Gastroenterol Nutr. 2019 Jan;68(1):e1-e6. doi: 10.1097/MPG.0000000000002149. J Pediatr Gastroenterol Nutr. 2019. PMID: 30589726
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K. Oppermann H, et al. Among authors: vodopiutz j. Eur J Hum Genet. 2023 Aug 30. doi: 10.1038/s41431-023-01445-2. Online ahead of print. Eur J Hum Genet. 2023. PMID: 37644171
Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease.
Panzer M, Viveiros A, Schaefer B, Baumgartner N, Seppi K, Djamshidian A, Todorov T, Griffiths WJH, Schott E, Schuelke M, Eurich D, Stättermayer AF, Bomford A, Foskett P, Vodopiutz J, Stauber R, Pertler E, Morell B, Tilg H, Müller T, Kiechl S, Jimenez-Heredia R, Weiss KH, Hahn SH, Janecke A, Ferenci P, Zoller H. Panzer M, et al. Among authors: vodopiutz j. Hepatol Commun. 2022 Jul;6(7):1611-1619. doi: 10.1002/hep4.1922. Epub 2022 Mar 10. Hepatol Commun. 2022. PMID: 35271763 Free PMC article.
33 results