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X
Maortua, Hiart
21  Ergebnisse:
Personensuche X
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1

Germline heterozygous exons 8–11 pathogenic BARD1 gene dele..:

Carrera, Sergio ; Rodríguez-Martínez, Ana Belén ; Garin, Intza...
Hereditary Cancer in Clinical Practice.  21 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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2

RNA Analysis and Clinical Characterization of a Novel Splic..:

Villate, Olatz ; Maortua, Hiart ; Tejada, María-Isabel.
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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3

Front Cover:

Pascual‐Alonso, Ainhoa ; Blasco, Laura ; Vidal, Silvia...
Clinical Genetics.  97 (2020)  4 - p. , 2020
Link: https://doi.org/10.1111/..
 
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4

Molecular characterization of Spanish patients with MECP2 d..:

Pascual‐Alonso, Ainhoa ; Blasco, Laura ; Vidal, Silvia...
Clinical Genetics.  97 (2020)  4 - p. 610-620 , 2020
Link: https://doi.org/10.1111/..
 
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5

Effect of AGG Interruptions on FMR1 Maternal Transmissions:

Villate, Olatz ; Ibarluzea, Nekane ; Maortua, Hiart...
Frontiers in Molecular Biosciences.  7 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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6

Associated Clinical Disorders Diagnosed by Medical Speciali..:

Merino, Sonia ; Ibarluzea, Nekane ; Maortua, Hiart...
Genes.  7 (2016)  10 - p. 90 , 2016
Link: https://doi.org/10.3390/..
 
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7

3p14 De Novo Interstitial Microdeletion in a Patient with I..:

de la Hoz, Ana Belén ; Maortua, Hiart ; García-Rives, Ainhoa...
Case Reports in Genetics.  2015 (2015)  - p. 1-7 , 2015
Link: https://doi.org/10.1155/..
 
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8

Molecular Testing for Fragile X: Analysis of 5062 Tests fro..:

Tejada, María-Isabel ; Glover, Guillermo ; Martínez, Francisco...
BioMed Research International.  2014 (2014)  - p. 1-8 , 2014
Link: https://doi.org/10.1155/..
 
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9

CDKL5 gene status in female patients with epilepsy and Rett..:

Maortua, Hiart ; Martínez-Bouzas, Cristina ; Calvo, María-Teresa...
BMC Medical Genetics.  13 (2012)  1 - p. , 2012
Link: https://doi.org/10.1186/..
 
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10

What are the most appropriate antibiotics for the treatment..:

Canut, Andrés ; Martín-Herrero, Jose E. ; Labora, Alicia.
Journal of Antimicrobial Chemotherapy.  60 (2007)  3 - p. 605-612 , 2007
Link: https://doi.org/10.1093/..
 
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11

Molecular testing for fragile X: analysis of 5062 tests fro..:

Tejada, María-Isabel ; Glover, Guillermo ; Martínez, Francisco...
http://www.hindawi.com/journals/bmri/2014/195793/abs/.  , 2014
Link: http://hdl.handle.net/10..
 
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12

Molecular testing for fragile X: analysis of 5062 tests fro..:

Tejada, María-Isabel ; Glover, Guillermo ; Martínez, Francisco...
http://www.hindawi.com/journals/bmri/2014/195793/abs/.  , 2014
Link: http://hdl.handle.net/10..
 
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13

CDKL5 gene status in female patients with epilepsy and Rett..:

Maortua, Hiart ; Martínez-Bouzas, Cristina ; Calvo, María-Teresa...
http://www.biomedcentral.com/1471-2350/13/68.  , 2012
Link: http://www.biomedcentral..
 
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14

CDKL5 gene status in female patients with epilepsy and Rett..:

Maortua Hiart ; Martínez-Bouzas Cristina ; Calvo María-Teresa...
http://www.biomedcentral.com/1471-2350/13/68.  , 2012
Link: https://doi.org/10.1186/..
 
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15

Germline heterozygous exons 8–11 pathogenic BARD1 gene dele..:

Sergio Carrera ; Ana Belén Rodríguez-Martínez ; Intza Garin...
https://doi.org/10.1186/s13053-023-00246-4.  , 2023
Link: https://doi.org/10.1186/..
 
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