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Rodríguez de Alba, Marta
3558  Ergebnisse:
Personensuche X
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1

Biallelic intragenic tandem duplication of CPLANE1 in Joube..:

Martínez‐Granero, Francisco ; Martínez‐Cayuelas, Elena ; Rodilla, Cristina...
Clinical Genetics.  103 (2023)  4 - p. 448-452 , 2023
Link: https://doi.org/10.1111/..
 
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2

Fine Breakpoint Mapping by Genome Sequencing Reveals the Fi..:

Damián, Alejandra ; Ionescu, Raluca Oancea ; Rodríguez de Alba, Marta...
International Journal of Molecular Sciences.  22 (2021)  23 - p. 12713 , 2021
Link: https://doi.org/10.3390/..
 
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3

Genetic landscape of 6089 inherited retinal dystrophies aff..:

Perea-Romero, Irene ; Gordo, Gema ; Iancu, Ionut F....
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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4

Comparison of the diagnostic yield of aCGH and genome-wide ..:

Martinez-Granero, Francisco ; Blanco-Kelly, Fiona ; Sanchez-Jimeno, Carolina...
npj Genomic Medicine.  6 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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5

Attention Deficit Hyperactivity and Autism Spectrum Disorde..:

Sanchez-Jimeno, Carolina ; Blanco-Kelly, Fiona ; López-Grondona, Fermina...
Genes.  12 (2021)  9 - p. 1360 , 2021
Link: https://doi.org/10.3390/..
 
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6

Author Correction: Genetic landscape of 6089 inherited reti..:

Perea-Romero, Irene ; Gordo, Gema ; Iancu, Ionut F....
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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7

European registration process for Clinical Laboratory Genet..:

on behalf of the Clinical Laboratory Geneticists Professional Branch Board, European Board of Medical Genetics, Vienna, Austria ; Liehr, Thomas ; Carreira, Isabel M...
European Journal of Human Genetics.  25 (2017)  5 - p. 515-519 , 2017
Link: https://doi.org/10.1038/..
 
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8

Fetal Genotyping in Maternal Blood by Digital PCR: Towards ..:

Perlado, Sara ; Bustamante-Aragonés, Ana ; Donas, Marta...
PLOS ONE.  11 (2016)  4 - p. e0153258 , 2016
Link: https://doi.org/10.1371/..
 
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9

Two interstitial rearrangements (16q deletion and 17p dupli..:

Sanchez‐Jimeno, Carolina ; Bustamante‐Aragonés, Ana ; Infantes‐Barbero, Fernando...
Clinical Case Reports.  2 (2014)  6 - p. 303-309 , 2014
Link: https://doi.org/10.1002/..
 
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10

Non-invasive prenatal diagnosis of single-gene disorders fr..:

Bustamante-Aragonés, Ana ; Rodríguez de Alba, Marta ; Perlado, Sara...
Gene.  504 (2012)  1 - p. 144-149 , 2012
Link: https://doi.org/10.1016/..
 
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11

Prenatal diagnosis in maternal plasma of a fetal mutation c..:

Bustamante-Aragones, Ana ; Pérez-Cerdá, Celia ; Pérez, Belén...
Molecular Genetics and Metabolism.  95 (2008)  1-2 - p. 101-103 , 2008
Link: https://doi.org/10.1016/..
 
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12

Clinical presentation of a variant of Axenfeld–Rieger syndr..:

Martinez-Glez, Victor ; Lorda-Sanchez, Isabel ; Ramirez, Jose Manuel...
European Journal of Medical Genetics.  50 (2007)  2 - p. 120-127 , 2007
Link: https://doi.org/10.1016/..
 
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13

Detection of a Paternally Inherited Fetal Mutation in Mater..:

BUSTAMANTE‐ARAGONES, ANA ; GARCIA‐HOYOS, MARIA ; RODRIGUEZ DE ALBA, MARTA...
Annals of the New York Academy of Sciences.  1075 (2006)  1 - p. 108-117 , 2006
Link: https://doi.org/10.1196/..
 
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14

Application of quantitative fluorescent PCR with short tand..:

Diego-Alvarez, Dan ; Garcia-Hoyos, Maria ; Trujillo, Maria Jose...
Human Reproduction.  20 (2005)  5 - p. 1235-1243 , 2005
Link: https://doi.org/10.1093/..
 
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15

Long-read genome sequencing identifies cryptic structural v..:

Damián, Alejandra ; Núñez-Moreno, Gonzalo ; Jubin, Claire...
Human Genomics.  17 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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