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Gabau Vila, Elisabeth
39  results:
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1

Variant-specific changes in RAC3 function disrupt corticoge..:

Scala, Marcello ; Nishikawa, Masashi ; Ito, Hidenori...
Brain.  145 (2022)  9 - p. 3308-3327 , 2022
Link: https://doi.org/10.1093/..
 
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2

Missense MED12 variants in 22 males with intellectual disab..:

Maia, Nuno ; Ibarluzea, Nekane ; Misra‐Isrie, Mala...
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 135-143 , 2022
Link: https://doi.org/10.1002/..
 
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3

Shprintzen-Goldberg syndrome and aortic dilatation: apropos..:

Trujillo-Quintero, Juan Pablo ; Gabau Vila, Elisabeth ; Larrañaga Moreira, José María...
Revista Española de Cardiología (English Edition).  74 (2021)  6 - p. 551-553 , 2021
Link: https://doi.org/10.1016/..
 
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4

Phenotype and genotype in 52 patients with Rubinstein–Taybi..:

Fergelot, Patricia ; Van Belzen, Martine ; Van Gils, Julien...
American Journal of Medical Genetics Part A.  170 (2016)  12 - p. 3069-3082 , 2016
Link: https://doi.org/10.1002/..
 
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5

Variant-specific changes in RAC3 function disrupt corticoge..:

Scala, Marcello ; Nishikawa, Masashi ; Ito, Hidenori...
qt6xw4z6x0.  , 2022
Link: https://escholarship.org..
 
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6

Missense MED12 variants in 22 males with intellectual disab..:

Maia, Nuno ; Ibarluzea, Nekane ; Misra‐Isrie, Mala...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092556/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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7

Missense variants in 22 males with intellectual disability:..:

Maia, Nuno ; Ibarluzea, Nekane ; Misra-Isrie, Mala...
American Journal Of Medical Genetics Part A. -191 : 1 (2022), p. 135-143. -Am. J. Med. Genet. A. - 1552-4825.  , 2022
Link: https://hdl.handle.net/2..
 
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8

Novel 14q32.2 paternal deletion encompassing the whole DLK1..:

Baena, Neus ; Monk, David ; Aguilera, Cinthia...
Clinical Epigenetics.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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9

Case report: Identification of a novel variant p.Gly215Arg ..:

Manso-Bazús, Carmen ; Spataro, Nino ; Gabau, Elisabeth...
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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10

High Performance of a Dominant/X-Linked Gene Panel in Patie..:

Spataro, Nino ; Trujillo-Quintero, Juan Pablo ; Manso, Carmen...
Genes.  14 (2023)  3 - p. 708 , 2023
Link: https://doi.org/10.3390/..
 
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11

Considerations on diagnosis and surveillance measures of PT..:

Pena-Couso, Laura ; Ercibengoa, María ; Mercadillo, Fátima...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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12

Variability in Phelan-McDermid Syndrome in a Cohort of 210 ..:

Nevado, Julián ; García-Miñaúr, Sixto ; Palomares-Bralo, María...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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13

New genes involved in Angelman syndrome-like: Expanding the..:

Aguilera, Cinthia ; Gabau, Elisabeth ; Ramirez-Mallafré, Ariadna...
PLOS ONE.  16 (2021)  10 - p. e0258766 , 2021
Link: https://doi.org/10.1371/..
 
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14

The broad phenotypic spectrum of PPP2R1A-related neurodevel..:

Lenaerts, Lisa ; Reynhout, Sara ; Verbinnen, Iris...
Genetics in Medicine.  23 (2021)  2 - p. 352-362 , 2021
Link: https://doi.org/10.1038/..
 
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15

The Novel KIF1A Missense Variant (R169T) Strongly Reduces M..:

Aguilera, Cinthia ; Hümmer, Stefan ; Masanas, Marc...
Frontiers in Neuroscience.  15 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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