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Miriam Aza-Carmona
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1

Increased prevalence of kidney cysts in individuals carryin..:

Furlano, Mónica ; Pilco-Teran, Melissa ; Pybus, Marc...
Nephrology Dialysis Transplantation.  , 2024
Link: https://doi.org/10.1093/..
 
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2

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics.  111 (2024)  5 - p. 996 , 2024
Link: https://doi.org/10.1016/..
 
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3

A Mild Presentation of X-Linked Hypophosphatemia Caused by ..:

Fraga, Gloria ; Herreros, M. Alba ; Pybus, Marc...
Genes.  15 (2024)  6 - p. 679 , 2024
Link: https://doi.org/10.3390/..
 
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4

Characterization of three adults and an adolescent with Ost..:

Travessa, André M. ; Dias, Patrícia ; Rosmaninho-Salgado, Joana...
European Journal of Medical Genetics.  66 (2023)  11 - p. 104867 , 2023
Link: https://doi.org/10.1016/..
 
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5

Clinical and Genetic Analysis of Multiple Osteochondromas i..:

Caino, Silvia ; Cubilla, Marisa Angelica ; Alba, Romina...
Genes.  13 (2022)  11 - p. 2063 , 2022
Link: https://doi.org/10.3390/..
 
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6

Description of four patients with TRIP11 variants expand th..:

del Pino, Mariana ; Sanchez-Soler, Maria José ; Parrón-Pajares, Manuel...
European Journal of Medical Genetics.  64 (2021)  5 - p. 104198 , 2021
Link: https://doi.org/10.1016/..
 
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7

Clinical consequences of BRCA2 hypomorphism:

Castells-Roca, Laia ; Gutiérrez-Enríquez, Sara ; Bonache, Sandra...
npj Breast Cancer.  7 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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8

High content drug screening for Fanconi anemia therapeutics:

Montanuy, Helena ; Camps-Fajol, Cristina ; Carreras-Puigvert, Jordi...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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9

Clinical and Molecular Description of 16 Families With Hete..:

Sentchordi-Montané, Lucía ; Benito-Sanz, Sara ; Aza-Carmona, Miriam...
The Journal of Clinical Endocrinology & Metabolism.  105 (2020)  8 - p. 2654-2666 , 2020
Link: https://doi.org/10.1210/..
 
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10

Prenatal diagnosis of fetal skeletal dysplasias in a tertia..:

Illescas, Tamara ; Mansilla, Elena ; Herrero, Beatriz...
European Journal of Obstetrics & Gynecology and Reproductive Biology.  250 (2020)  - p. 209-215 , 2020
Link: https://doi.org/10.1016/..
 
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11

Decapping protein EDC4 regulates DNA repair and phenocopies..:

Hernández, Gonzalo ; Ramírez, María José ; Minguillón, Jordi...
Nature Communications.  9 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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12

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics.  103 (2018)  2 - p. 221-231 , 2018
Link: https://doi.org/10.1016/..
 
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13

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics.  103 (2018)  3 - p. 456 , 2018
Link: https://doi.org/10.1016/..
 
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14

Mutations in C-natriuretic peptide (NPPC): a novel cause of..:

Hisado-Oliva, Alfonso ; Ruzafa-Martin, Alba ; Sentchordi, Lucia...
Genetics in Medicine.  20 (2018)  1 - p. 91-97 , 2018
Link: https://doi.org/10.1038/..
 
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15

Detectable clonal mosaicism in blood as a biomarker of canc..:

Reina-Castillón, Judith ; Pujol, Roser ; López-Sánchez, Marcos...
Blood Advances.  1 (2017)  5 - p. 319-329 , 2017
Link: https://doi.org/10.1182/..
 
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