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Year Number of Results
2002 1
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Page 1
Genetics of gastrointestinal atresias.
Celli J. Celli J. Eur J Med Genet. 2014 Aug;57(8):424-39. doi: 10.1016/j.ejmg.2014.06.007. Epub 2014 Jul 11. Eur J Med Genet. 2014. PMID: 25019371 Review.
Mutation update for the PORCN gene.
Lombardi MP, Bulk S, Celli J, Lampe A, Gabbett MT, Ousager LB, van der Smagt JJ, Soller M, Stattin EL, Mannens MA, Smigiel R, Hennekam RC. Lombardi MP, et al. Among authors: celli j. Hum Mutat. 2011 Jul;32(7):723-8. doi: 10.1002/humu.21505. Epub 2011 Jun 21. Hum Mutat. 2011. PMID: 21472892 Review.
Clinical Significance and Regulation of ERK5 Expression and Function in Cancer.
Monti M, Celli J, Missale F, Cersosimo F, Russo M, Belloni E, Di Matteo A, Lonardi S, Vermi W, Ghigna C, Giurisato E. Monti M, et al. Among authors: celli j. Cancers (Basel). 2022 Jan 11;14(2):348. doi: 10.3390/cancers14020348. Cancers (Basel). 2022. PMID: 35053510 Free PMC article. Review.
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: celli j. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Hum Mutat. 2010. PMID: 20052767 Review.
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. Sun Y, et al. Among authors: celli j. Am J Hum Genet. 2010 Jul 9;87(1):146-53. doi: 10.1016/j.ajhg.2010.06.008. Am J Hum Genet. 2010. PMID: 20598277 Free PMC article.
11 results