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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 3
1999 1
2001 1
2006 1
2007 1
2009 1
2015 1
2017 1
2019 1
2020 1
2021 2
2022 2
2023 4
2024 0

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12 results

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Page 1
Dyskeratosis Congenita and Related Telomere Biology Disorders.
Savage SA, Niewisch MR. Savage SA, et al. 2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301779 Free Books & Documents. Review.
Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy an …
Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is pre …
NDP-Related Retinopathies.
Scruggs BA, Reding MQ, Schimmenti LA. Scruggs BA, et al. 1999 Jul 30 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Jul 30 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301506 Free Books & Documents. Review.
The spectrum of NDP-related retinopathies appears to be a continuum with considerable overlap, ranging from Norrie disease, NDP-related persistent fetal vasculature, NDP-related familial exudative vitreoretinopathy, NDP-related advanced retinopathy of prematurity, and NDP-related …
The spectrum of NDP-related retinopathies appears to be a continuum with considerable overlap, ranging from Norrie disease, NDP-related pers …
SETD2 Neurodevelopmental Disorders.
Pappas J, Rabin R. Pappas J, et al. 2021 Dec 30 [updated 2022 Sep 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2021 Dec 30 [updated 2022 Sep 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 34978780 Free Books & Documents. Review.
Individuals with SETD2-NDD with MCA may have microcephaly, congenital heart malformations, urogenital anomalies, eye findings (specifically Coats disease of the retina), severe failure to thrive, hypotonia, hyponatremia, respiratory issues (tracheomalacia, frequent aspirat …
Individuals with SETD2-NDD with MCA may have microcephaly, congenital heart malformations, urogenital anomalies, eye findings (specifically …
[Typical presentation of Coats' disease].
Mainguy A, Lebreton O, Lebranchu P. Mainguy A, et al. J Fr Ophtalmol. 2020 Oct;43(8):816-817. doi: 10.1016/j.jfo.2019.11.029. Epub 2020 Jul 4. J Fr Ophtalmol. 2020. PMID: 32631691 French. No abstract available.
The effect of white coats and gender on medical students' perceptions of physicians.
Ladha M, Bharwani A, McLaughlin K, Stelfox HT, Bass A. Ladha M, et al. BMC Med Educ. 2017 May 26;17(1):93. doi: 10.1186/s12909-017-0932-1. BMC Med Educ. 2017. PMID: 28549461 Free PMC article.
BACKGROUND: Despite the fact that medical schools spend a considerable effort to rate clinical instructors, there is limited evidence regarding the effect of physical characteristics on instructor ratings. White coats have been shown to alter patients' perceptions of physi …
BACKGROUND: Despite the fact that medical schools spend a considerable effort to rate clinical instructors, there is limited evidence regard …
Observations on the management of Coats' disease: less is more.
Adam RS, Kertes PJ, Lam WC. Adam RS, et al. Br J Ophthalmol. 2007 Mar;91(3):303-6. doi: 10.1136/bjo.2006.103382. Epub 2006 Oct 4. Br J Ophthalmol. 2007. PMID: 17020897 Free PMC article.
BACKGROUND: In this article we share our experience of treating various severities of Coats' disease and focus on optimal therapy for advanced disease. ...CONCLUSION: In this limited series, visual outcomes in the setting of advanced Coats' disease are largely depen …
BACKGROUND: In this article we share our experience of treating various severities of Coats' disease and focus on optimal therapy for …
Structure and membrane remodeling activity of ESCRT-III helical polymers.
McCullough J, Clippinger AK, Talledge N, Skowyra ML, Saunders MG, Naismith TV, Colf LA, Afonine P, Arthur C, Sundquist WI, Hanson PI, Frost A. McCullough J, et al. Science. 2015 Dec 18;350(6267):1548-51. doi: 10.1126/science.aad8305. Epub 2015 Dec 3. Science. 2015. PMID: 26634441 Free PMC article.
Unlike other ESCRT-III proteins, CHMP1B and IST1 polymers form external coats on positively curved membranes in vitro and in vivo. Our analysis suggests how common ESCRT-III filament architectures could stabilize different degrees and directions of membrane curvature....
Unlike other ESCRT-III proteins, CHMP1B and IST1 polymers form external coats on positively curved membranes in vitro and in vivo. Ou …
12 results