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A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression. [electronic resource] by
- Mencía, Angeles
- González-Nieto, Daniel
- Modamio-Høybjør, Silvia
- Etxeberría, Ainhoa
- Aránguez, Gracia
- Salvador, Nieves
- Del Castillo, Ignacio
- Villarroel, Alvaro
- Moreno, Felipe
- Barrio, Luis
- Moreno-Pelayo, Miguel Angel
Producer: 20080425
In:
Human genetics vol. 123
Availability: No items available.
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Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane. [electronic resource] by
- Legan, P Kevin
- Goodyear, Richard J
- Morín, Matías
- Mencia, Angeles
- Pollard, Hilary
- Olavarrieta, Leticia
- Korchagina, Julia
- Modamio-Hoybjor, Silvia
- Mayo, Fernando
- Moreno, Felipe
- Moreno-Pelayo, Miguel-Angel
- Richardson, Guy P
Producer: 20141203
In:
Human molecular genetics vol. 23
Availability: No items available.
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Differential biological role of CD3 chains revealed by human immunodeficiencies. [electronic resource] by
- Recio, María J
- Moreno-Pelayo, Miguel Angel
- Kiliç, Sara S
- Guardo, Alberto C
- Sanal, Ozden
- Allende, Luis M
- Pérez-Flores, Verónica
- Mencía, Angeles
- Modamio-Høybjør, Silvia
- Seoane, Elena
- Regueiro, José R
Producer: 20070320
In:
Journal of immunology (Baltimore, Md. : 1950) vol. 178
Availability: No items available.
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Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. [electronic resource] by
- Mencía, Angeles
- Modamio-Høybjør, Silvia
- Redshaw, Nick
- Morín, Matías
- Mayo-Merino, Fernando
- Olavarrieta, Leticia
- Aguirre, Luis A
- del Castillo, Ignacio
- Steel, Karen P
- Dalmay, Tamas
- Moreno, Felipe
- Moreno-Pelayo, Miguel Angel
Producer: 20090629
In:
Nature genetics vol. 41
Availability: No items available.
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In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. [electronic resource] by
- Morín, Matías
- Bryan, Keith E
- Mayo-Merino, Fernando
- Goodyear, Richard
- Mencía, Angeles
- Modamio-Høybjør, Silvia
- del Castillo, Ignacio
- Cabalka, Jessica M
- Richardson, Guy
- Moreno, Felipe
- Rubenstein, Peter A
- Moreno-Pelayo, Miguel Angel
Producer: 20091027
In:
Human molecular genetics vol. 18
Availability: No items available.
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Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing. [electronic resource] by
- Bonafont, Jose
- Mencía, Ángeles
- García, Marta
- Torres, Raúl
- Rodríguez, Sandra
- Carretero, Marta
- Chacón-Solano, Esteban
- Modamio-Høybjør, Silvia
- Marinas, Lucía
- León, Carlos
- Escamez, María J
- Hausser, Ingrid
- Del Río, Marcela
- Murillas, Rodolfo
- Larcher, Fernando
Producer: 20200323
In:
Molecular therapy : the journal of the American Society of Gene Therapy vol. 27
Availability: No items available.
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DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. [electronic resource] by
- Hildebrand, Michael S
- Morín, Matías
- Meyer, Nicole C
- Mayo, Fernando
- Modamio-Hoybjor, Silvia
- Mencía, Angeles
- Olavarrieta, Leticia
- Morales-Angulo, Carmelo
- Nishimura, Carla J
- Workman, Heather
- DeLuca, Adam P
- del Castillo, Ignacio
- Taylor, Kyle R
- Tompkins, Bruce
- Goodman, Corey W
- Schrauwen, Isabelle
- Wesemael, Maarten Van
- Lachlan, K
- Shearer, A Eliot
- Braun, Terry A
- Huygen, Patrick L M
- Kremer, Hannie
- Van Camp, Guy
- Moreno, Felipe
- Casavant, Thomas L
- Smith, Richard J H
- Moreno-Pelayo, Miguel A
Producer: 20111014
In:
Human mutation vol. 32
Availability: No items available.
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