Found: 11
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Three cases with L1 syndrome and two novel mutations in the L1CAM gene.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis.
- Published in:
- European Journal of Pediatrics, 2012, v. 171, n. 6, p. 997, doi. 10.1007/s00431-012-1697-5
- By:
- Publication type:
- Article
VEXAS‐Syndrom erfolgreich mit Canakinumab therapiert.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2023, v. 21, n. 1, p. 69, doi. 10.1111/ddg.14933_g
- By:
- Publication type:
- Article
Vexas syndrome successfully treated with canakinumab.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2023, v. 21, n. 1, p. 69, doi. 10.1111/ddg.14933
- By:
- Publication type:
- Article
Zwei neue Mutationen im PPOX‐Gen bei einem Patienten mit Porphyria variegata.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2020, v. 18, n. 4, p. 381, doi. 10.1111/ddg.14079_g
- By:
- Publication type:
- Article
Two new mutations in the PPOX gene in a patient with variegate porphyria.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2020, v. 18, n. 4, p. 381, doi. 10.1111/ddg.14079
- By:
- Publication type:
- Article
Potential Diagnostic Value of the Differential Expression of Histone H3 Variants between Low- and High-Grade Gliomas.
- Published in:
- Cancers, 2021, v. 13, n. 21, p. 5261, doi. 10.3390/cancers13215261
- By:
- Publication type:
- Article
Response to flecainide test in Andersen‐Tawil syndrome with incessant ventricular tachycardia.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Differential epigenetic regulation between the alternative promoters, PRDM1α and PRDM1β, of the tumour suppressor gene PRDM1 in human multiple myeloma cells.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72946-z
- By:
- Publication type:
- Article
A New Variant of the PTEN Gene in Relation to Cowden Syndrome Type 1.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Transcription of PRDM1, the master regulator for plasma cell differentiation, depends on an SP1/SP3/EGR-1 GC-box.
- Published in:
- European Journal of Immunology, 2008, v. 38, n. 8, p. 2316, doi. 10.1002/eji.200737861
- By:
- Publication type:
- Article