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Dive into the research topics where Nili Schoenfeld is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma
Minder, E. I., Schneider-Yin, X., Mamet, R., Horev, L., Neuenschwander, S., Baumer, A., Austerlitz, F., Puy, H. & Schoenfeld, N., Nov 2010, In: Journal of the European Academy of Dermatology and Venereology. 24, 11, p. 1349-1353 5 p.Research output: Contribution to journal › Article › peer-review
10 Scopus citations -
Novel human pathological mutations. Gene symbol: HMBS. Disease: Acute intermittent porphyria
Ulbrichova, D., Mamet, R., Munter, G., Martasek, P. & Schoenfeld, N., Jan 2010, In: Human Genetics. 127, 1, p. 114 1 p.Research output: Contribution to journal › Comment/debate
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Awareness is the name of the game: Clinical and biochemical evaluation of a case of a girl diagnosed with acute intermittent porphyria associated with autism
Luder, A. S., Mamet, R., Farbstein, I. & Schoenfeld, N., 2009, In: Cellular and Molecular Biology. 55, 1, p. 19-22 4 p.Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria
Ulbrichova, D., Schneider-Yin, X., Mamet, R., Saudek, V., Martasek, P., Minder, E. I. & Schoenfeld, N., Mar 2009, In: Blood Cells, Molecules, and Diseases. 42, 2, p. 167-173 7 p.Research output: Contribution to journal › Article › peer-review
11 Scopus citations -
Variations in the length of poly-C and poly-T tracts in intron 3 of the human ferrochelatase gene
Barman, J., Schneider-Yin, X., Mamet, R., Schoenfeld, N. & Minder, E. I., 2009, In: Cellular and Molecular Biology. 55, 2, p. 102-110 9 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations