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1 . Academic Journal
Three novel polymorphic microsatellite markers for the glaucoma locus GLC1B by datamining tetranucleotide repeats on chromosome 2p12-q12
저자
by
Murga-Zamalloa, Carlos
;
Guevara-Fujita, Maria Luisa
;
Estrada-Cuzcano, Alejandro
;
Fujita, Ricardo
.
소스
Genetics and Molecular Biology
. January 2009 32(4)
Open Access (SciELO)
Scopus
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6 . Academic Journal
Identification and Characterization of Novel Founder Mutations in NDRG1 : Refining the Genetic Landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria.
저자
by
Atkinson, Derek
;
Chamova, Teodora
;
Candayan, Ayse
;
Kastreva, Kristina
;
Asenov, Ognian
, et al.
소스
International Journal of Molecular Sciences
. Aug2024, Vol. 25 Issue 16, p9047. 13p.
Web of Science
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7 . Academic Journal
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
저자
by
Karam, Adella
;
Delvallée, Clarisse
;
Estrada-Cuzcano, Alejandro
;
Geoffroy, Véronique
;
Lamouche, Jean-Baptiste
, et al.
소스
International Journal of Molecular Sciences
. May2023, Vol. 24 Issue 10, p8729. 15p.
Web of Science
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7 . Academic Journal
MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
저자
by
Guevara‐Fujita, María Luisa
;
Huaman‐Dianderas, Francia
;
Obispo, Daisy
;
Sánchez, Rodrigo
;
Barrenechea, Victor
, et al.
소스
Molecular Genetics & Genomic Medicine
. Sep2021, Vol. 9 Issue 9, p1-12. 12p.
Open Access (Wiley)
Scopus
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7 . Academic Journal
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
저자
by
Estrada‐Cuzcano, Alejandro
;
Etard, Christelle
;
Delvallée, Clarisse
;
Stoetzel, Corinne
;
Schaefer, Elise
, et al.
소스
Human Mutation; Jan2020, Vol. 41 Issue 1, p240-254, 15p
Scopus
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7 . Academic Journal
DETECCIÓN DE MUTACIONES CAUSANTES DE DISTROFIA MUSCULAR DE DUCHENNE/BECKER: REACCIÓN EN CADENA DE LA POLIMERASA MULTIPLEX VS. AMPLIFICACIÓN MÚLTIPLE DEPENDIENTE DE LIGACIÓN POR SONDAS.
저자
by
Huamán-Dianderas, Francia D. P.
;
Luisa Guevara-Fujita, María
;
Rojas Málaga, Diana
;
Estrada-Cuzcano, Alejandro
;
Fujita, Ricardo
.
소스
Revista Peruana de Medicina Experimental y Salud Pública
. 2019, Vol. 36 Issue 3, p475-480. 6p. 1 Illustration, 1 Chart, 2 Graphs.
Scopus
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7 . Academic Journal
Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation.
저자
by
Inzelberg, Rivka
;
Estrada-Cuzcano, Alejandro
;
Laitman, Yael
;
De Vriendt, Els
;
Friedman, Eitan
, et al.
소스
Journal of Parkinson's Disease
. 2018, Vol. 8 Issue 3, p399-403. 5p.
Scopus
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7 . Academic Journal
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
저자
by
Ylikallio, Emil
;
Woldegebriel, Rosa
;
Tumiati, Manuela
;
Isohanni, Pirjo
;
Ryan, Monique M.
, et al.
소스
Brain: A Journal of Neurology
. Aug2017, Vol. 140 Issue 8, p2093-2103. 11p.
Full Text (OUP)
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7 . Academic Journal
Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.
저자
by
Atkinson, Derek
;
Glumac, Jelena Nikodinovic
;
Asselbergh, Bob
;
Ermanoska, Biljana
;
Blocquel, David
, et al.
소스
Neurology; 2/7/2017, Vol. 88 Issue 6, p533-542, 10p, 1 Color Photograph, 2 Charts, 2 Graphs
Full Text (LWW)
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7 . Academic Journal
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
저자
by
Estrada-Cuzcano, Alejandro
;
Martin, Shaun
;
Chamova, Teodora
;
Synofzik, Matthis
;
Timmann, Dagmar
, et al.
소스
Brain: A Journal of Neurology
. Feb2017, Vol. 140 Issue 2, p287-305. 19p.
Full Text (OUP)
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