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/vufind/Search/Results?lookfor=%22Estrada%E2%80%90Cuzcano%2C+Alejandro%22&type=Person&sort=year
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PubPharm (31)
1
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
enthalten in:
International journal of molecular sciences
| 2023
von
Karam, A.
|
Delvallée, C.
|
Estrada-Cuzcano, A.
| +16
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2
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
enthalten in:
Molecular genetics & genomic medicine
| 2021
von
Guevara-Fujita, M.
|
Huaman-Dianderas, F.
|
Obispo, D.
| +15
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3
MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
enthalten in:
Molecular Genetics & Genomic Medicine
| 2021
von
Guevara‐Fujita, M.
|
Huaman‐Dianderas, F.
|
Obispo, D.
| +15
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4
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
enthalten in:
Human mutation
| 2020
von
Estrada-Cuzcano, A.
|
Etard, C.
|
Delvallée, C.
| +15
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5
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
enthalten in:
Human mutation
| 2020
von
Estrada‐Cuzcano, A.
|
Etard, C.
|
Delvallée, C.
| +15
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6
Detection of mutations causing Duchenne and Becker muscular dystrophies : multiplex polymerase chain reaction vs. Multiplex ligation dependent probe amplification
enthalten in:
Revista peruana de medicina experimental y salud publica
| 2019
von
Huamán-Dianderas, F.
|
Guevara-Fujita, M.
|
Málaga, D.
| +2
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7
Kufor-Rakeb Syndrome/PARK9 : One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation
enthalten in:
Journal of Parkinson's disease
| 2018
von
Inzelberg, R.
|
Estrada-Cuzcano, A.
|
Laitman, Y.
| +3
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8
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability
enthalten in:
Brain : a journal of neurology
| 2017
von
Ylikallio, E.
|
Woldegebriel, R.
|
Tumiati, M.
| +25
CommentIn: Brain. 2017 Oct 1;140(10):e65. - PMID 28969388
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9
Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy
enthalten in:
Neurology
| 2017
von
Atkinson, D.
|
Nikodinovic Glumac, J.
|
Asselbergh, B.
| +11
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10
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
enthalten in:
Brain : a journal of neurology
| 2017
von
Estrada-Cuzcano, A.
|
Martin, S.
|
Chamova, T.
| +19
CommentIn: Brain. 2017 Dec 1;140(12):e73. - PMID 29112699
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