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Showing results (221-230 of 242) with videos related to

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NPJ Genomic Medicine|March 26, 2021
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disordersFrancisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, et al.
Prenatal Diagnosis|March 13, 2026
Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of PregnancyAna Isabel Sanchez Barbero, Marta Rodríguez de Alba Freiría, María Jose Trujillo-Tiebas, et al.
JAAD International|May 22, 2024
Real-world outcomes in patients with malignancy and moderate-to-severe psoriasis treated with guselkumabTamara Gracia Cazaña, Josep Riera Monroig, Rosa Izu, et al.
Ophthalmology|March 24, 2019
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish CasesInmaculada Martin-Merida, Almudena Avila-Fernandez, Marta Del Pozo-Valero, et al.
NPJ Genomic Medicine|July 14, 2022
Allelic overload and its clinical modifier effect in Bardet-Biedl syndromeIrene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, et al.
Scientific Reports|November 10, 2022
Five years' experience of the clinical exome sequencing in a Spanish single centerA Arteche-López, A Ávila-Fernández, R Riveiro Álvarez, et al.
Scientific Reports|March 12, 2021
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomesA Arteche-López, A Ávila-Fernández, R Romero, et al.
Nature|July 25, 2008
Ecosystem energetic implications of parasite and free-living biomass in three estuariesArmand M Kuris, Ryan F Hechinger, Jenny C Shaw, et al.
American Journal of Ophthalmology|July 4, 2020
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic VariantsMarta Del Pozo-Valero, Rosa Riveiro-Alvarez, Fiona Blanco-Kelly, et al.
Human Genetics|August 27, 2021
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseasesI Perea-Romero, F Blanco-Kelly, I Sanchez-Navarro, et al.
Pageof 25

Showing results (221-230 of 242) with videos related to

Sort By:
Pageof 25
NPJ Genomic Medicine|March 26, 2021
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disordersFrancisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, et al.
Prenatal Diagnosis|March 13, 2026
Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of PregnancyAna Isabel Sanchez Barbero, Marta Rodríguez de Alba Freiría, María Jose Trujillo-Tiebas, et al.
JAAD International|May 22, 2024
Real-world outcomes in patients with malignancy and moderate-to-severe psoriasis treated with guselkumabTamara Gracia Cazaña, Josep Riera Monroig, Rosa Izu, et al.
Ophthalmology|March 24, 2019
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish CasesInmaculada Martin-Merida, Almudena Avila-Fernandez, Marta Del Pozo-Valero, et al.
NPJ Genomic Medicine|July 14, 2022
Allelic overload and its clinical modifier effect in Bardet-Biedl syndromeIrene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, et al.
Scientific Reports|November 10, 2022
Five years' experience of the clinical exome sequencing in a Spanish single centerA Arteche-López, A Ávila-Fernández, R Riveiro Álvarez, et al.
Scientific Reports|March 12, 2021
Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomesA Arteche-López, A Ávila-Fernández, R Romero, et al.
Nature|July 25, 2008
Ecosystem energetic implications of parasite and free-living biomass in three estuariesArmand M Kuris, Ryan F Hechinger, Jenny C Shaw, et al.
American Journal of Ophthalmology|July 4, 2020
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic VariantsMarta Del Pozo-Valero, Rosa Riveiro-Alvarez, Fiona Blanco-Kelly, et al.
Human Genetics|August 27, 2021
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseasesI Perea-Romero, F Blanco-Kelly, I Sanchez-Navarro, et al.
Pageof 25