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1994 1
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A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.
Macke EL, Morales-Rosado JA, Gupta A, Schmitz CT, Kruisselbrink T, Lanpher B, Klee EW. Macke EL, et al. Cold Spring Harb Mol Case Stud. 2020 Aug 25;6(4):a005165. doi: 10.1101/mcs.a005165. Print 2020 Aug. Cold Spring Harb Mol Case Stud. 2020. PMID: 32843428 Free PMC article.
The proband is a 39-yr-old female evaluated through the Mayo Clinic Department of Clinical Genomics. Prior to age 36, she had more than 60 skin biopsies that showed dysplastic nevi, many of which had atypia. ...Research studies determined the alterations to be in trans Alt …
The proband is a 39-yr-old female evaluated through the Mayo Clinic Department of Clinical Genomics. Prior to age 36, she had more th …
Afterloading radiotherapy for local persistence of nasopharyngeal carcinoma.
Teo P, Leung SF, Choi P, Lee WY, Johnson PJ. Teo P, et al. Br J Radiol. 1994 Feb;67(794):181-5. doi: 10.1259/0007-1285-67-794-181. Br J Radiol. 1994. PMID: 8130981
Significant prognosticators were studied by both monovariate and multivariate analysis. The early overall clinical stage at first presentation predicted a favourable survival. ...The intracavitary treatment was tolerated well and treatment complications were confined to th …
Significant prognosticators were studied by both monovariate and multivariate analysis. The early overall clinical stage at first pre …