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PubPharm (21)
1
Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing
enthalten in:
Current medical science
| 2024
von
Li, J.
|
Meng, L.
|
Hou, B.
| +6
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2
Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families
enthalten in:
International journal of ophthalmology
| 2022
von
Cui, H.
|
Jin, X.
|
Yang, Q.
| +4
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3
Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease
enthalten in:
Bioscience reports
| 2021
von
Qu, L.
|
Jin, X.
|
Zeng, C.
| +3
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4
Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing
enthalten in:
Bioscience reports
| 2020
von
Qu, L.
|
Jin, X.
|
Long, Y.
| +7
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5
Long-term safety of human retinal progenitor cell transplantation in retinitis pigmentosa patients
enthalten in:
Stem cell research & therapy
| 2017
von
Liu, Y.
|
Chen, S.
|
Li, S.
| +6
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6
Long-term safety of human retinal progenitor cell transplantation in retinitis pigmentosa patients
enthalten in:
Stem cell research & therapy
| 2017
von
Liu, Y.
|
Chen, S.
|
Li, S.
| +6
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7
Long-term safety of human retinal progenitor cell transplantation in retinitis pigmentosa patients
enthalten in:
Stem cell research & therapy
| 2017
von
Liu, Y.
|
Chen, S.
|
Li, S.
| +6
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8
Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family
enthalten in:
Bioscience reports
| 2016
von
Jin, X.
|
Qu, L.
|
Hou, B.
| +4
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9
Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology
enthalten in:
Molecular genetics and genomics : MGG
| 2015
von
Qu, L.
|
Jin, X.
|
Xu, H.
| +2
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10
Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family
enthalten in:
International journal of ophthalmology
| 2015
von
Zhai, W.
|
Jin, X.
|
Gong, Y.
| +3
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Thema
12
Journal Article
8
Retinitis pigmentosa
7
Research Support, Non-U.S. Gov't
5
Usher syndrome
4
Next-generation sequencing
4
mutation
3
Cell transplantation
3
Hearing loss
3
Progenitor cell
3
Retina
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next-generation sequencing
1
ABCA4 gene
1
ABCA4 protein, human
1
ATP-Binding Cassette Transporters
1
BEST1 gene
1
C5aR2 protein, human
1
CNGA1
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Erscheinungszeitraum
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2020-
17
2010-2019
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