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Estrada‐Cuzcano, Alejandro
36
results:
Search for persons
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Format
Online (36)
Mediatypes
Articles (Online) (11)
OpenAccess-fulltext (25)
Languages
english (30)
spanish (4)
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1
MLPA followed by target‐NGS to detect mutations in the dyst..:
Guevara‐Fujita, María Luisa
;
Huaman‐Dianderas, Francia
;
Obispo, Daisy
...
Molecular Genetics & Genomic Medicine. 9 (2021) 9 - p. , 2021
Link:
https://doi.org/10.1002/..
?
2
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES,..:
Karam, Adella
;
Delvallée, Clarisse
;
Estrada-Cuzcano, Alejandro
...
International Journal of Molecular Sciences. 24 (2023) 10 - p. 8729 , 2023
Link:
https://doi.org/10.3390/..
?
3
Loss-of-function mutations in theATP13A2/PARK9 gene cause c..:
Estrada-Cuzcano, Alejandro
;
Martin, Shaun
;
Chamova, Teodora
...
Brain. 140 (2017) 2 - p. 287-305 , 2017
Link:
https://doi.org/10.1093/..
?
4
Sphingosine 1-phosphate lyase deficiency causes Charcot-Mar..:
Atkinson, Derek
;
Nikodinovic Glumac, Jelena
;
Asselbergh, Bob
...
Neurology. 88 (2017) 6 - p. 533-542 , 2017
Link:
https://doi.org/10.1212/..
?
5
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild..:
Ylikallio, Emil
;
Woldegebriel, Rosa
;
Tumiati, Manuela
...
Brain. 140 (2017) 8 - p. 2093-2103 , 2017
Link:
https://doi.org/10.1093/..
?
6
Novel mutations in genes causing hereditary spastic paraple..:
Kancheva, Daliya
;
Atkinson, Derek
;
De Rijk, Peter
...
Genetics in Medicine. 18 (2016) 6 - p. 600-607 , 2016
Link:
https://doi.org/10.1038/..
?
7
Union Makes Strength: A Worldwide Collaborative Genetic and..:
Perrault, Isabelle
;
Estrada-Cuzcano, Alejandro
;
Lopez, Irma
...
PLoS ONE. 8 (2013) 1 - p. e51622 , 2013
Link:
https://doi.org/10.1371/..
?
8
Mutations in C8orf37, Encoding a Ciliary Protein, are Assoc..:
Estrada-Cuzcano, Alejandro
;
Neveling, Kornelia
;
Kohl, Susanne
...
The American Journal of Human Genetics. 90 (2012) 1 - p. 102-109 , 2012
Link:
https://doi.org/10.1016/..
?
9
Candidate exome capture identifies mutation of SDCCAG8 as t..:
Otto, Edgar A
;
Hurd, Toby W
;
Airik, Rannar
...
Nature Genetics. 42 (2010) 10 - p. 840-850 , 2010
Link:
https://doi.org/10.1038/..
?
10
A common allele in RPGRIP1L is a modifier of retinal degene..:
Khanna, Hemant
;
Davis, Erica E
;
Murga-Zamalloa, Carlos A
...
Nature Genetics. 41 (2009) 6 - p. 739-745 , 2009
Link:
https://doi.org/10.1038/..
?
11
Uso de la técnica SSCP para detectar mutaciones puntuales d..:
Estrada-Cuzcano, Alejandro
;
Sandoval, José
;
Guevara-Fujita, María L.
.
Revista Peruana de Biología. 12 (2005) 3 - p. 349-358 , 2005
Link:
https://doi.org/10.15381..
?
12
MLPA followed by target‐NGS to detect mutations in the dyst..:
Guevara‐Fujita, María Luisa
;
Huaman‐Dianderas, Francia
;
Obispo, Daisy
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457708/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
13
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES,..:
Adella Karam
;
Clarisse Delvallée
;
Alejandro Estrada-Cuzcano
...
Molecular Pathology, Diagnostics, and Therapeutics. , 2023
Link:
https://doi.org/10.3390/..
?
14
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES,..:
Adella Karam
;
Clarisse Delvallée
;
Alejandro Estrada-Cuzcano
...
https://www.mdpi.com/1422-0067/24/10/8729. , 2023
Link:
https://doi.org/10.3390/..
?
15
MLPA followed by target‐NGS to detect mutations in the dyst..:
María Luisa Guevara‐Fujita
;
Francia Huaman‐Dianderas
;
Daisy Obispo
...
https://doi.org/10.1002/mgg3.1759. , 2021
Link:
https://doi.org/10.1002/..
1-15