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1 . Academic Journal
Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease
저자
by
Alfredo Dueñas Rey
;
Marta del Pozo Valero
;
Manon Bouckaert
;
Katherine A Wood
;
Filip Van den Broeck
, et al.
소스
Genome Medicine, Vol 16, Iss 1, Pp 1-21 (2024)
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7 . Academic Journal
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
저자
by
Béatrice Bocquet
;
Caroline Borday
;
Nejla Erkilic
;
Daria Mamaeva
;
Alicia Donval
, et al.
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JCI Insight, Vol 8, Iss 21 (2023)
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7 . Academic Journal
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases
저자
by
Alejandra Damián
;
Gonzalo Núñez-Moreno
;
Claire Jubin
;
Alejandra Tamayo
;
Marta Rodríguez de Alba
, et al.
소스
Human Genomics, Vol 17, Iss 1, Pp 1-12 (2023)
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7 . Academic Journal
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
저자
by
Rebekkah J. Hitti-Malin
;
Daan M. Panneman
;
Zelia Corradi
;
Erica G. M. Boonen
;
Galuh Astuti
, et al.
소스
Biomolecules, Vol 14, Iss 3, p 367 (2024)
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7 . Academic Journal
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort
저자
by
Lidia Fernández-Caballero
;
Inmaculada Martín-Merida
;
Fiona Blanco-Kelly
;
Almudena Avila-Fernandez
;
Ester Carreño
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2913 (2024)
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7 . Academic Journal
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease
저자
by
María Rodríguez-Hidalgo
;
Suzanne E. de Bruijn
;
Zelia Corradi
;
Kim Rodenburg
;
Araceli Lara-López
, et al.
소스
Frontiers in Genetics, Vol 14 (2023)
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7 . Academic Journal
MRI USING GADOXETIC ACID IN THE WORK-UP OF LIVER NODULES NOT CONCLUSIVELY BENIGN IN BUDD-CHIARI SYNDROME. A PROSPECTIVE LONG-TERM FOLLOW-UP
저자
by
Angeles Garcia-Criado
;
Jordi Rimola
;
Susana Seijo
;
Anna Darnell
;
Ernest Belmonte
, et al.
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Liver Cancer (2023)
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7 . Academic Journal
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
저자
by
Irene Perea-Romero
;
Carlos Solarat
;
Fiona Blanco-Kelly
;
Iker Sanchez-Navarro
;
Brais Bea-Mascato
, et al.
소스
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-7 (2022)
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7 . Academic Journal
Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19
저자
by
Rosario López-Rodríguez
;
Marta Del Pozo-Valero
;
Marta Corton
;
Pablo Minguez
;
Javier Ruiz-Hornillos
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
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7 . Academic Journal
Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
저자
by
Patricia Pascual
;
Jair Tenorio-Castano
;
Cyril Mignot
;
Alexandra Afenjar
;
Pedro Arias
, et al.
소스
Genes, Vol 14, Iss 9, p 1664 (2023)
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