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Human Mutation|May 11, 2013
Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiencyXiaohui Tan, Sarah L Anzick, Sikandar G Khan, et al.
Clinical Nutrition (Edinburgh, Scotland)|January 31, 2026
Prospective study of anamorelin in pancreatic cancer cachexia: Clinical and translational insights into response heterogeneityRyosuke Matsukane, Haruna Minami, Nao Fujimori, et al.
International Journal of Hematology|March 10, 2025
Retrospective nationwide survey of pediatric RDD in Japan: a high prevalence of mutations in the kinase pathway genesTakeshi Asano, Akira Morimoto, Atsuko Nakazawa, et al.
Carcinogenesis|August 6, 2005
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patientsSikandar G Khan, Kyu-Seon Oh, Tala Shahlavi, et al.
Respirology (Carlton, Vic.)|January 21, 2024
Comparison of the specimen quality of endobronchial ultrasound-guided intranodal forceps biopsy using standard-sized forceps versus mini forceps for lung cancer: A prospective studyToshiyuki Nakai, Yuji Matsumoto, Takahiro Ueda, et al.
Ophthalmology|October 1, 2011
Ocular manifestations of trichothiodystrophyBrian P Brooks, Amy H Thompson, Janine A Clayton, et al.
Journal of Medical Genetics|November 25, 2010
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repairPorcia T Bradford, Alisa M Goldstein, Deborah Tamura, et al.
International Journal of Hematology|January 20, 2016
Residual disease detected by multidimensional flow cytometry shows prognostic significance in childhood acute myeloid leukemia with intermediate cytogenetics and negative FLT3-ITD: a report from the Tokyo Children's Cancer Study GroupDai Keino, Akitoshi Kinoshita, Daisuke Tomizawa, et al.
The Journal of Investigative Dermatology|June 13, 2002
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patientsSteffen Emmert, Hanoch Slor, David B Busch, et al.
Ophthalmology|April 23, 2013
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damageBrian P Brooks, Amy H Thompson, Rachel J Bishop, et al.
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