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/vufind/Search/Results?lookfor=%22RPGRIP1%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
/vufind/Search/Results?lookfor=%22RPGRIP1%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
Search /vufind/Search2/Results?lookfor=%22RPGRIP1%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
PubPharm (173)
1
RPGRIP1-related retinal disease presenting as isolated cone dysfunction
enthalten in:
Ophthalmic genetics
| 2023
von
Khan, A.
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2
Novel mutation in RPGRIP1L gene causing Joubert syndrome : A case report
enthalten in:
Medicine
| 2023
von
Duque-Cordoba, P.
|
Diaz-Ordoñez, L.
|
Gutierrez-Medina, J.
| +1
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3
A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement
enthalten in:
BMC pediatrics
| 2023
von
Li, Q.
|
Liu, Q.
|
Liu, S.
| +5
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4
RPGRIP1 variant associated with pigmented paravenous chorioretinal atrophy
enthalten in:
European journal of ophthalmology
| 2023
von
Bianco, L.
|
Antropoli, A.
|
Arrigo, A.
| +5
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5
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients
enthalten in:
International journal of molecular sciences
| 2023
von
Torii, K.
|
Nishina, S.
|
Morikawa, H.
| +12
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6
Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci
enthalten in:
Human molecular genetics
| 2023
von
Ripolles-Garcia, A.
|
Murgiano, L.
|
Ziolkowska, N.
| +5
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7
Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine RPGRIP1-associated cone-rod dystrophy
enthalten in:
Frontiers in cellular neuroscience
| 2023
von
Takahashi, K.
|
Kwok, J.
|
Sato, Y.
| +2
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8
The Structural Abnormalities Are Deeply Involved in the Cause of
in:
International Journal of Molecular Sciences
| 2023
von
Kaoruko Torii
|
Sachiko Nishina
|
Hazuki Morikawa
| +12
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9
Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy
enthalten in:
Open life sciences
| 2023
von
Liu, Z.
|
Wang, H.
|
He, X.
| +2
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10
A 5-year-old girl with kidney impairment and severe anemia : Answers
enthalten in:
Pediatric nephrology (Berlin, Germany)
| 2023
von
Steinman, B.
|
Del Rio, M.
|
Zolotnitskaya, A.
| +1
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173
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Human molecular genetics
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Alle anzeigen ...
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Thema
145
Journal Article
96
Cytoskeletal Proteins
95
Research Support, Non-U.S. Gov't
90
Proteins
75
RPGRIP1 protein, human
58
Adaptor Proteins, Signal Transducing
44
RPGRIP1L protein, human
39
Eye Proteins
38
Research Support, N.I.H., Extramural
23
Carrier Proteins
23
Review
21
Membrane Proteins
19
Cell Cycle Proteins
19
RPGRIP1L
18
RPGR protein, human
16
Case Reports
15
Antigens, Neoplasm
14
Cep290 protein, human
13
EC 3.1.1.64
13
EC 5.2.-
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Erscheinungszeitraum
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2020-
84
2010-2019
43
2000-2009
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Sprache
171
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1
Chinesisch
1
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