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Palomares-Bralo, María
94  results:
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1

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac,..:

Palma-Milla, Carmen ; Prat-Planas, Aina ; Soengas-Gonda, Emma...
Pediatric Neurology.  155 (2024)  - p. 8-17 , 2024
Link: https://doi.org/10.1016/..
 
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2

DNA methylation episignature and comparative epigenomic pro..:

van der Laan, Liselot ; Lauffer, Peter ; Rooney, Kathleen...
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100289 , 2024
Link: https://doi.org/10.1016/..
 
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3

YWHAE loss of function causes a rare neurodevelopmental dis..:

Denommé-Pichon, Anne-Sophie ; Collins, Stephan C. ; Bruel, Ange-Line...
Genetics in Medicine.  25 (2023)  7 - p. 100835 , 2023
Link: https://doi.org/10.1016/..
 
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4

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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5

De novo missense variants in FBXO11 alter its protein expre..:

Gregor, Anne ; Meerbrei, Tanja ; Gerstner, Thorsten...
Human Molecular Genetics.  31 (2021)  3 - p. 440-454 , 2021
Link: https://doi.org/10.1093/..
 
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6

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Diso..:

Tenorio-Castaño, Jair ; Morte, Beatriz ; Nevado, Julián...
Genes.  12 (2021)  5 - p. 738 , 2021
Link: https://doi.org/10.3390/..
 
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7

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic..:

Santos-Simarro, Fernando ; Pacio, Marta ; Cueto-González, Anna María...
European Journal of Medical Genetics.  64 (2021)  11 - p. 104338 , 2021
Link: https://doi.org/10.1016/..
 
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8

Expanding the Phenotypic Spectrum of PAX6 Mutations: From C..:

Nieves-Moreno, Maria ; Noval, Susana ; Peralta, Jesus...
Genes.  12 (2021)  5 - p. 707 , 2021
Link: https://doi.org/10.3390/..
 
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9

Biallelic MADD variants cause a phenotypic spectrum ranging..:

Schneeberger, Pauline E ; Kortüm, Fanny ; Korenke, Georg Christoph...
Brain.  143 (2020)  8 - p. 2437-2453 , 2020
Link: https://doi.org/10.1093/..
 
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10

A Novel Role for the Tumor Suppressor Gene ITF2 in Tumorige..:

Pernía, Olga ; Sastre-Perona, Ana ; Rodriguez-Antolín, Carlos...
Cancers.  12 (2020)  4 - p. 786 , 2020
Link: https://doi.org/10.3390/..
 
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11

In-frame Variants inFLNAProximal Rod 1 Domain Associate Wit..:

Fernández, Luis ; Tenorio, Jair ; Polo-Vaquero, Coral...
Revista Española de Cardiología (English Edition).  71 (2018)  7 - p. 545-552 , 2018
Link: https://doi.org/10.1016/..
 
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12

Pitfalls of trio-based exome sequencing: imprinted genes an..:

Palomares-Bralo, María ; Vallespín, Elena ; del Pozo, Ángela...
Genetics in Medicine.  19 (2017)  11 - p. 1283-1285 , 2017
Link: https://doi.org/10.1038/..
 
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13

Array CGH Analysis of Paired Blood and Tumor Samples from P..:

Cabral de Almeida Cardoso, Leila ; Rodriguez-Laguna, Lara ; del Carmen Crespo, María...
PLOS ONE.  10 (2015)  8 - p. e0136812 , 2015
Link: https://doi.org/10.1371/..
 
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14

YWHAE loss of function causes a rare neurodevelopmental dis..:

Denommé-Pichon, Anne-Sophie ; Collins, Stephan, C ; Bruel, Ange-Line...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2023.100835.  , 2023
Link: https://inserm.hal.scien..
 
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15

YWHAE loss of function causes a rare neurodevelopmental dis..:

Denommé-Pichon, Anne-Sophie ; Collins, Stephan, C ; Bruel, Ange-Line...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2023.100835.  , 2023
Link: https://inserm.hal.scien..
 
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