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1 . Academic Journal
Do people with hereditary cancer syndromes inform their at-risk relatives? A systematic review and meta-analysis
저자
by
Muhammad Danyal Ahsan
;
Sarah R. Levi
;
Emily M. Webster
;
Hannah Bergeron
;
Jenny Lin
, et al.
소스
PEC Innovation, Vol 2, Iss , Pp 100138- (2023)
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7 . Academic Journal
Foveolar thickness as potential standardized structural outcome measurement in studies of Bietti crystalline dystrophy
저자
by
Laura A. Jenny
;
Pei-Kang Liu
;
Masha Kolesnikova
;
Jimmy Duong
;
Angela H. Kim
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
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7 . Academic Journal
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series
저자
by
Jin Kyun Oh
;
José G. Vargas Del Valle
;
Jose Ronaldo Lima de Carvalho
;
Young Joo Sun
;
Sarah R. Levi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
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7 . Academic Journal
Multimodal imaging reveals retinoschisis masquerading as retinal detachment in patients with choroideremia
저자
by
Luciano C. Greig
;
Karen G. Gutierrez
;
Jin Kyun Oh
;
Sarah R. Levi
;
Edward Korot
, et al.
소스
American Journal of Ophthalmology Case Reports, Vol 26, Iss , Pp 101543- (2022)
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7 . Academic Journal
Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations
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by
Bruna Lopes da Costa
;
Masha Kolesnikova
;
Sarah R. Levi
;
Thiago Cabral
;
Stephen H. Tsang
, et al.
소스
Biomedicines, Vol 11, Iss 2, p 385 (2023)
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7 . Academic Journal
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
저자
by
Ahra Cho
;
Jose Ronaldo Lima de Carvalho
;
Akemi J. Tanaka
;
Ruben Jauregui
;
Sarah R. Levi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
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7 . Academic Journal
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa
저자
by
Jin Kyun Oh
;
Jose Ronaldo Lima de Carvalho
;
Young Joo Sun
;
Sara Ragi
;
Jing Yang
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
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7 . Academic Journal
Conditional Deletion of Activating Rearranged During Transfection Receptor Tyrosine Kinase Leads to Impairment of Photoreceptor Ribbon Synapses and Disrupted Visual Function in Mice
저자
by
Wei-Hao Peng
;
Meng-Lin Liao
;
Wan-Chun Huang
;
Pei-Kang Liu
;
Sarah R. Levi
, et al.
소스
Frontiers in Neuroscience, Vol 15 (2021)
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7 . Academic Journal
Prime Editing for Inherited Retinal Diseases
저자
by
Bruna Lopes da Costa
;
Sarah R. Levi
;
Eric Eulau
;
Yi-Ting Tsai
;
Peter M. J. Quinn
.
소스
Frontiers in Genome Editing, Vol 3 (2021)
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7 . Academic Journal
Role of Oxidative Stress in Ocular Diseases Associated with Retinal Ganglion Cells Degeneration
저자
by
Eugene Yu-Chuan Kang
;
Pei-Kang Liu
;
Yao-Tseng Wen
;
Peter M. J. Quinn
;
Sarah R. Levi
, et al.
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Antioxidants, Vol 10, Iss 12, p 1948 (2021)
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