Molecular Biology & Genetics
Listando 10 trabajos de la institución 40
Lista de trabajos en el área Molecular Biology & Genetics
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CoronaHiT: high-throughput sequencing of SARS-CoV-2 genomes
Baker, Dave J.; Le-Viet, Thanh; Kay, Gemma L.; Rudder, Steven; Martins, Leonardo de Oliveira; Tedim, Ana P.; Kolyva, Anastasia; Diaz, Maria; Alikhan, Nabil-Fareed; Meadows, Lizzie; Bell, Andrew; Gutierrez, Ana Victoria; Trotter, Alexander J.; Thomson, Nich
GENOME MEDICINE
1756-994X (2021)
DOI /
10.1186/s13073-021-00839-5
Green published, Green accepted, Green submitted, Gold
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25
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Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy
Ochoa, Juan P.; Lopes, Luis R.; Perez-Barbeito, Marlene; Cazon-Varela, Laura; de la Torre-Carpente, Maria M.; Sonicheva-Paterson, Natalia; de Una-Iglesias, David; Quinn, Ellen; Kuzmina-Krutetskaya, Svetlana; Garrote, Jose A.; Elliott, Perry M.; Monserrat,
CLINICAL GENETICS
0009-9163 (2020)
DOI /
10.1111/cge.13759
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12
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Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort
Gonzalez-Meneses, Antonio; Pineda, Merce; Bandeira, Anabela; Janeiro, Patricia; Angeles Ruiz, Maria; Diogo, Luisa; Cancho-Candela, Ramon
ORPHANET JOURNAL OF RARE DISEASES
(2021)
DOI /
10.1186/s13023-021-02063-1
Green published, Gold
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1
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From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
Martinez-Monseny, Antonio; Cuadras, Daniel; Bolasell, Merce; Muchart, Jordi; Arjona, Cesar; Borregan, Mar; Algrabli, Adi; Montero, Raquel; Artuch, Rafael; Velazquez-Fragua, Ramon; Macaya, Alfons; Perez-Cerda, Celia; Perez-Duenas, Belen; Perez, Belen; Serra
JOURNAL OF MEDICAL GENETICS
0022-2593 (2019)
DOI /
10.1136/jmedgenet-2018-105588
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11
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PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation
Coco-Martin, Rosa M.; Sanchez-Tocino, Hortensia T.; Desco, Carmen; Usategui-Martin, Ricardo; Telleria, Juan J.
GENES
(2020)
DOI /
10.3390/genes11070773
Green published, Gold
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Association of the IL-15 and IL-15R alpha genes with celiac disease
Escudero-Hernandez, Celia; Plaza-Izurieta, Leticia; Garrote, Jose A.; Ramon Bilbao, Jose; Arranz, Eduardo
CYTOKINE
1043-4666 (2017)
DOI /
10.1016/j.cyto.2017.07.009
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7
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Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension
Castano, Jair Antonio Tenorio; Hernandez-Gonzalez, Ignacio; Gallego, Natalia; Perez-Olivares, Carmen; Ochoa Parra, Nuria; Arias, Pedro; Granda, Elena; Acebo, Gonzalo Gomez; Lago-Docampo, Mauro; Palomino-Doza, Julian; Lopez Meseguer, Manuel; del Cerro, Mari
GENES
(2020)
DOI /
10.3390/genes11101158
Gold DOAJ, Green published
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5
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New insights into the genetic component of non-infectious uveitis through an Immunochip strategy
Marquez, Ana; Cordero-Coma, Miguel; Manuel Martin-Villa, Jose; Begona Gorrono-Echebarria, Marina; Blanco, Ricardo; Diaz Valle, David; Jose del Rio, Maria; Blanco, Ana; Luis Olea, Jose; Cordero, Yolanda; Jose Capella, Maria; Diaz-Llopis, Manuel; Ortego-Cent
JOURNAL OF MEDICAL GENETICS
0022-2593 (2017)
DOI /
10.1136/jmedgenet-2016-104144
Green submitted, Green published
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8
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Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
Cabanillas, Ruben; Dineiro, Marta; Cifuentes, Guadalupe A.; Castillo, David; Pruneda, Patricia C.; Alvarez, Rebeca; Sanchez-Duran, Noelia; Capin, Raquel; Plasencia, Ana; Viejo-Diaz, Monica; Garcia-Gonzalez, Noelia; Hernando, Ines; Llorente, Jose L.; Repara
BMC MEDICAL GENOMICS
(2018)
DOI /
10.1186/s12920-018-0375-5
Gold DOAJ, Green published
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6
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Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia
Gallego, Diana; Leal, Fatima; Gamez, Alejandra; Castro, Margarita; Navarrete, Rosa; Sanchez-Lijarcio, Obdulia; Vitoria, Isidro; Bueno-Delgado, Maria; Belanger-Quintana, Amaya; Morais, Ana; Pedron-Giner, Consuelo; Garcia, Inmaculada; Campistol, Jaume; Artuc
HUMAN MUTATION
1059-7794 (2020)
DOI /
10.1002/humu.24026
