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Font-Llitjós, Mariona
20  results:
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1

Mutations in L-type amino acid transporter-2 support SLC7A8..:

Espino Guarch, Meritxell ; Font-Llitjós, Mariona ; Murillo-Cuesta, Silvia...
eLife.  7 (2018)  - p. , 2018
Link: https://doi.org/10.7554/..
 
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2

Digenic Inheritance in Cystinuria Mouse Model:

Espino, Meritxell ; Font-Llitjós, Mariona ; Vilches, Clara...
PLOS ONE.  10 (2015)  9 - p. e0137277 , 2015
Link: https://doi.org/10.1371/..
 
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3

Cerebral Cortex Hyperthyroidism of Newborn Mct8-Deficient M..:

Núñez, Bárbara ; Martínez de Mena, Raquel ; Obregon, Maria Jesus...
PLoS ONE.  9 (2014)  5 - p. e96915 , 2014
Link: https://doi.org/10.1371/..
 
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4

Two Novel Mutations in theBCKDK(Branched-Chain Keto-Acid De..:

García-Cazorla, Angels ; Oyarzabal, Alfonso ; Fort, Joana...
Human Mutation.  35 (2014)  4 - p. 470-477 , 2014
Link: https://doi.org/10.1002/..
 
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5

Impaired phagocytosis in macrophages from patients affected..:

Barilli, Amelia ; Rotoli, Bianca Maria ; Visigalli, Rossana...
Molecular Genetics and Metabolism.  105 (2012)  4 - p. 585-589 , 2012
Link: https://doi.org/10.1016/..
 
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6

Mutations in L-type amino acid transporter-2 support SLC7A8..:

Guarch, Meritxell Espino ; Font-Llitjós, Mariona ; Murillo-Cuesta, Silvia...
info:eu-repo/semantics/altIdentifier/pmid/29355479.  , 2018
Link: http://hdl.handle.net/11..
 
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7

Mutations in L-type amino acid transporter-2 support SLC7A8..:

Espino Guarch, Meritxell ; Font-Llitjós, Mariona ; Murillo-Cuesta, Silvia...
#PLACEHOLDER_PARENT_METADATA_VALUE#.  , 2018
Link: http://hdl.handle.net/10..
 
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8

Cerebral cortex hyperthyroidism of newborn Mct8-deficient m..:

Núñez, Bárbara ; Martínez de Mena, Raquel ; Obregon, Maria Jesus...
PLoS ONE.  , 2015
Link: http://hdl.handle.net/10..
 
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9

Clinical utility gene card for: Cystinuria:

Eggermann, Thomas ; Zerres, Klaus ; Nunes, Virginia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260922.  , 2012
Link: http://www.ncbi.nlm.nih...
 
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10

Novel SLC7A7 large rearrangements in lysinuric protein into..:

Font-Llitjós, Mariona ; Rodríguez-Santiago, Benjamín ; Espino, Meritxell...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985956.  , 2009
Link: http://www.ncbi.nlm.nih...
 
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11

Mutations in L-type amino acid transporter-2 support SLC7A8..:

Espino Gaurch, Meritxell ; Font i Llitjós, Mariona ; Murillo-Cuesta, Silvia...
Reproducció del document publicat a: https://doi.org/10.7554/eLife.31511.  , 2018
Link: http://hdl.handle.net/24..
 
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12

Mutations in L-type amino acid transporter-2 support SLC7A8..:

Meritxell Espino Guarch ; Mariona Font-Llitjós ; Silvia Murillo-Cuesta...
https://elifesciences.org/articles/31511.  , 2018
Link: https://doi.org/10.7554/..
 
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13

Digenic Inheritance in Cystinuria Mouse Model:

Meritxell Espino ; Mariona Font-Llitjós ; Clara Vilches...
http://europepmc.org/articles/PMC4567282?pdf=render.  , 2015
Link: https://doi.org/10.1371/..
 
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14

Digenic inheritance in cystinuria mouse model:

Espino Gaurch, Meritxell ; Font i Llitjós, Mariona ; Vilches, Clara...
Reproducció del document publicat a: http://dx.doi.org/10.1371/journal.pone.0137277.  , 2015
Link: http://hdl.handle.net/24..
 
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15

Cerebral cortex hyperthyroidism of newborn Mct8-deficient m..:

Nuñez, Bárbara ; Martínez de Mena, Raquel ; Obregón, Maria Jesús...
Reproducció del document publicat a: https://doi.org/10.1371/journal.pone.0096915.  , 2014
Link: http://hdl.handle.net/24..
 
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