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Page 1
Rothmund-Thomson syndrome.
Larizza L, Roversi G, Volpi L. Larizza L, et al. Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. Orphanet J Rare Dis. 2010. PMID: 20113479 Free PMC article. Review.
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, pre …
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short …
On the impairment argument.
Simkulet W. Simkulet W. Bioethics. 2021 Jun;35(5):400-406. doi: 10.1111/bioe.12844. Epub 2021 Feb 1. Bioethics. 2021. PMID: 33527428
In her influential paper 'A defense of abortion,' Judith Jarvis Thomson effectively sidesteps this issue, assuming the fetus is a person with the right to life yet arguing this alone does not give it the right to use the mother's body. ...For Hendricks, risking fetal impai …
In her influential paper 'A defense of abortion,' Judith Jarvis Thomson effectively sidesteps this issue, assuming the fetus is a per …
Joule-Thomson Effect on a CCS-Relevant (CO(2) + N(2)) System.
Gao M, Wang L, Chen X, Wei X, Liang J, Li L. Gao M, et al. ACS Omega. 2021 Mar 31;6(14):9857-9867. doi: 10.1021/acsomega.1c00554. eCollection 2021 Apr 13. ACS Omega. 2021. PMID: 33869966 Free PMC article.
The Joule-Thomson effect is a key chemical thermodynamic property that is encountered in several industrial applications for CO(2) capture and storage (CCS). ...The temperature and pressure of the transportation and compression conditions in CCS are far lower than the corr …
The Joule-Thomson effect is a key chemical thermodynamic property that is encountered in several industrial applications for CO(2) ca …
Rothmund-Thomson syndrome with osteosarcoma.
Drouin CA, Mongrain E, Sasseville D, Bouchard HL, Drouin M. Drouin CA, et al. J Am Acad Dermatol. 1993 Feb;28(2 Pt 2):301-5. doi: 10.1016/0190-9622(93)70040-z. J Am Acad Dermatol. 1993. PMID: 8436644 Review.
Rothmund-Thomson syndrome is a rare genodermatosis that features a progressive, early-onset poikiloderma, a high incidence of juvenile cataracts, stunted growth, and a wide range of skeletal abnormalities. We report the seventh case of osteosarcoma in a patient with Rothmu …
Rothmund-Thomson syndrome is a rare genodermatosis that features a progressive, early-onset poikiloderma, a high incidence of juvenil …
Mr. Rootsey's Letter to A. T. Thomson, Esq.
Rootsey S. Rootsey S. Lond Med Phys J. 1816 Apr;35(206):275-277. Lond Med Phys J. 1816. PMID: 30493886 Free PMC article. No abstract available.
A Chinese patient with Rothmund-Thomson syndrome.
Zeng J, Li J, Liu Y, Liang R, Wang L, Zhou Q, Sun J, Liu Z, Wang WJ, Zhu S. Zeng J, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2347. doi: 10.1002/mgg3.2347. Epub 2023 Dec 22. Mol Genet Genomic Med. 2024. PMID: 38131666 Free PMC article.
INTRODUCTION: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that has been reported in all ethnicities, with several identifiable pathogenic variants. ...RESULTS: After analyzing the WGS data, we found a heterozygous nonsense mutation c.2752G> …
INTRODUCTION: Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that has been reported in all ethnicities, with …
11,314 results
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