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Ruiz-Pérez, Víctor L.
13462  Ergebnisse:
Personensuche X
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1

EVC-EVC2 complex stability and ciliary targeting are regula..:

Barbeito, Pablo ; Martin-Morales, Raquel ; Palencia-Campos, Adrian...
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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2

Optical fiber pH sensor based on multimode interference dev..:

Velasco, Pedro ; Camas Anzueto, Jorge ; Lopez Cortes, Daniel..
Applied Optics.  , 2023
Link: https://doi.org/10.1364/..
 
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3

Consolidating the association of biallelicMAPKAPK5pathogeni..:

Maroofian, Reza ; Efthymiou, Stephanie ; Suri, Mohnish...
Journal of Medical Genetics.  60 (2022)  8 - p. 791-796 , 2022
Link: https://doi.org/10.1136/..
 
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4

FOSL2 truncating variants in the last exon cause a neurodev..:

Cospain, Auriane ; Rivera-Barahona, Ana ; Dumontet, Erwan...
Genetics in Medicine.  24 (2022)  12 - p. 2475-2486 , 2022
Link: https://doi.org/10.1016/..
 
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5

Mutations in SCNM1 cause orofaciodigital syndrome due to mi..:

Iturrate, Asier ; Rivera-Barahona, Ana ; Flores, Carmen-Lisset...
The American Journal of Human Genetics.  109 (2022)  10 - p. 1828-1849 , 2022
Link: https://doi.org/10.1016/..
 
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6

A PKA inhibitor motif within SMOOTHENED controls Hedgehog s..:

Happ, John T. ; Arveseth, Corvin D. ; Bruystens, Jessica...
Nature Structural & Molecular Biology.  29 (2022)  10 - p. 990-999 , 2022
Link: https://doi.org/10.1038/..
 
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7

3D assessment of intervertebral disc degeneration in zebraf..:

Kague, Erika ; Turci, Francesco ; Newman, Elis...
Bone Research.  9 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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8

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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9

Further delineation of neuropsychiatric findings in Tatton-..:

Tenorio, Jair ; Alarcón, Pablo ; Arias, Pedro...
European Journal of Human Genetics.  28 (2019)  4 - p. 469-479 , 2019
Link: https://doi.org/10.1038/..
 
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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 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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11

CLAPO syndrome: identification of somatic activating PIK3CA..:

Rodriguez-Laguna, Lara ; Ibañez, Kristina ; Gordo, Gema...
Genetics in Medicine.  20 (2018)  8 - p. 882-889 , 2018
Link: https://doi.org/10.1038/..
 
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12

GLI1 inactivation is associated with developmental phenotyp..:

Palencia-Campos, Adrian ; Ullah, Asmat ; Nevado, Julian...
Human Molecular Genetics.  26 (2017)  23 - p. 4556-4571 , 2017
Link: https://doi.org/10.1093/..
 
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13

Molecular spectrum and differential diagnosis in patients r..:

Caparros-Martin, Jose A. ; Aglan, Mona S. ; Temtamy, Samia...
Molecular Genetics & Genomic Medicine.  5 (2016)  1 - p. 28-39 , 2016
Link: https://doi.org/10.1002/..
 
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14

Specific variants in WDR35 cause a distinctive form of Elli..:

Caparrós-Martín, José A. ; De Luca, Alessandro ; Cartault, François...
Human Molecular Genetics.  24 (2015)  14 - p. 4126-4137 , 2015
Link: https://doi.org/10.1093/..
 
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15

Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese..:

Valencia, Maria ; Tabet, Lara ; Yazbeck, Nadine...
Case Reports in Genetics.  2015 (2015)  - p. 1-4 , 2015
Link: https://doi.org/10.1155/..
 
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