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/vufind/Search/Results?lookfor=%22Guirguis%2C+Fady%22&type=Person&sort=year
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PubPharm (9)
1
The recurrent deep intronic pseudoexon-inducing variant
COL6A1
c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
enthalten in:
bioRxiv.org
| 2024
von
Foley, A.
|
Bolduc, V.
|
Guirguis, F.
| +66
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2
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy : Towards clinical trial readiness for splice-modulating therapy
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Foley, A.
|
Bolduc, V.
|
Guirguis, F.
| +66
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3
A humanized knock-in
Col6a1
mouse recapitulates a deep-intronic splice-activating variant
enthalten in:
bioRxiv.org
| 2024
von
Bolduc, V.
|
Guirguis, F.
|
Lubben, B.
| +7
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4
A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant
enthalten in:
bioRxiv : the preprint server for biology
| 2024
von
Bolduc, V.
|
Guirguis, F.
|
Lubben, B.
| +7
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5
Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy
enthalten in:
Methods in molecular biology (Clifton, N.J.)
| 2023
von
Aguti, S.
|
Guirguis, F.
|
Bönnemann, C.
| +3
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6
Nationwide tracheostomy among neonatal admissions - A cross-sectional analysis
enthalten in:
International journal of pediatric otorhinolaryngology
| 2022
von
Guirguis, F.
|
Chorney, S.
|
Wang, C.
| +4
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7
Combined Environment Simulator for Low-Dose-Rate Radiation and Partial Gravity of Moon and Mars
enthalten in:
Life (Basel, Switzerland)
| 2020
von
Takahashi, A.
|
Yamanouchi, S.
|
Takeuchi, K.
| +13
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8
Two novel arenaviruses detected in pygmy mice, Ghana
enthalten in:
Emerging infectious diseases
| 2013
von
Kronmann, K.
|
Nimo-Paintsil, S.
|
Guirguis, F.
| +5
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9
An effective venipuncture technique and normal serum biochemistry parameters of the captive fat-tailed jird (Pachyuromys duprasi)
enthalten in:
Journal of the American Association for Laboratory Animal Science : JAALAS
| 2009
von
Felt, S.
|
Guirguis, F.
|
Wasfy, M.
| +3
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1
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2KFG9TP5V8
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54EJ303F0R
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Acepromazine
1
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Antisense oligonucleotide
1
COL6
1
COL6A1
1
Col6a1 protein, human
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Collagen Type VI
1
Collagen VI-related muscular dystrophies
1
Congenital muscular dystrophy
1
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Exon skipping
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