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Fernández-Núñez, Elisa
2674  Ergebnisse:
Personensuche X
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1

Variant characterisation and clinical profile in a large co..:

Altunoglu, Umut ; Palencia-Campos, Adrian ; Güneş, Nilay...
Journal of Medical Genetics.  61 (2024)  7 - p. 633-644 , 2024
Link: https://doi.org/10.1136/..
 
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2

Biallelic truncating variants in MAPKAPK5 cause a new devel..:

Horn, Denise ; Fernández-Núñez, Elisa ; Gomez-Carmona, Ricardo...
Genetics in Medicine.  23 (2021)  4 - p. 679-688 , 2021
Link: https://doi.org/10.1038/..
 
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3

Recessive mutations in muscle-specific isoforms of FXR1 cau..:

Estañ, María Cristina ; Fernández-Núñez, Elisa ; Zaki, Maha S....
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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4

Serum Tryptase Monitoring in Indolent Systemic Mastocytosis..:

Matito, Almudena ; Morgado, José Mario ; Álvarez-Twose, Iván...
PLoS ONE.  8 (2013)  10 - p. e76116 , 2013
Link: https://doi.org/10.1371/..
 
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5

Immunophenotyping in systemic mastocytosis diagnosis: 'CD25..:

Morgado, José Mário T ; Sánchez-Muñoz, Laura ; Teodósio, Cristina G...
Modern Pathology.  25 (2012)  4 - p. 516-521 , 2012
Link: https://doi.org/10.1038/..
 
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6

Biallelic truncating variants in MAPKAPK5 cause a new devel..:

Horn, Denise ; Fernández-Núñez, Elisa ; Gomez-Carmona, Ricardo...
Genetics in Medicine.  , 2022
Link: http://hdl.handle.net/10..
 
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7

Caracterización de las bases genéticas y moleculares de dos..:

Fernández-Núñez, Elisa
Publisher's version.  , 2021
Link: http://hdl.handle.net/10..
 
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8

Recessive mutations in muscle-specific isoforms of FXR1 cau..:

Estañ, María Cristina ; Fernández-Núñez, Elisa ; Zaki, Maha S...
#PLACEHOLDER_PARENT_METADATA_VALUE#.  , 2019
Link: http://hdl.handle.net/10..
 
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9

Recessive mutations in muscle-specific isoforms of FXR1 cau..:

Estañ, María Cristina ; Fernández-Núñez, Elisa ; Zaki, Maha S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377633/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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10

Recessive mutations in muscle-specific isoforms of FXR1 cau..:

Estañ, María Cristina ; Fernández-Núñez, Elisa ; Zaki, Maha S...
Nature Communications;10(1).  , 2019
Link: https://hdl.handle.net/1..
 
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11

Recessive mutations in muscle-specific isoforms of FXR1 cau..:

Estañ, María Cristina ; Fernández-Núñez, Elisa ; Zaki, Maha S...
Nature Communications.  , 2019
Link: http://hdl.handle.net/10..
 
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12

Recessive mutations in muscle-specific isoforms of FXR1 cau..:

Estañ, María Cristina ; Fernández-Núñez, Elisa ; Zaki, Maha S...
Nature communications.  , 2019
Link: https://ddd.uab.cat/reco..
 
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13

Recessive mutations in muscle-specific isoforms of FXR1 cau..:

María Cristina Estañ ; Elisa Fernández-Núñez ; Maha S. Zaki...
https://doi.org/10.1038/s41467-019-08548-9.  , 2019
Link: https://doi.org/10.1038/..
 
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14

Recessive mutations in muscle-specific isoforms of FXR1 cau..:

Maria Cristina Estan ; Elisa Fernandez-Nunez ; Maha S Zaki...
2381/11815035.v1.  , 2019
Link: https://figshare.com/art..
 
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15

Serum tryptase monitoring in indolent systemic mastocytosis..:

Almudena Matito ; José Mario Morgado ; Iván Álvarez-Twose...
http://europepmc.org/articles/PMC3796517?pdf=render.  , 2013
Link: https://doi.org/10.1371/..
 
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