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Martínez de LaPiscina, Idoia
122  Ergebnisse:
Personensuche X
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1

Clinical and genetic characteristics of a large internation..:

Kouri, Chrysanthi ; Sommer, Grit ; Martinez de Lapiscina, Idoia...
eBioMedicine.  99 (2024)  - p. 104941 , 2024
Link: https://doi.org/10.1016/..
 
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2

Characterization of 35 Novel NR5A1/SF-1 Variants Identified..:

Naamneh Elzenaty, Rawda ; Martinez de Lapiscina, Idoia ; Kouri, Chrysanthi...
The Journal of Clinical Endocrinology & Metabolism.  , 2024
Link: https://doi.org/10.1210/..
 
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3

A Novel Mutation in the INSR Gene Causes Severe Insulin Res..:

Rojas Velazquez, Maria Natalia ; Blanco, Fabiola ; Ayala-Lugo, Ana...
International Journal of Molecular Sciences.  25 (2024)  6 - p. 3143 , 2024
Link: https://doi.org/10.3390/..
 
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4

Genetic reanalysis of patients with a difference of sex dev..:

Martinez de Lapiscina, Idoia ; Kouri, Chrysanthi ; Aurrekoetxea, Josu...
PLOS ONE.  18 (2023)  7 - p. e0287515 , 2023
Link: https://doi.org/10.1371/..
 
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5

Incidence of diabetes mellitus and associated risk factors ..:

Urrutia, Inés ; Martín-Nieto, Alicia ; Martínez, Rosa...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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6

Rare Germline DICER1 Variants in Pediatric Patients With Cu..:

Martínez de LaPiscina, Idoia ; Hernández-Ramírez, Laura C. ; Portillo, Nancy...
Frontiers in Endocrinology.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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7

Novel variant in the CNNM2 gene associated with dominant hy..:

García-Castaño, Alejandro ; Madariaga, Leire ; Antón-Gamero, Montserrat...
PLOS ONE.  15 (2020)  9 - p. e0239965 , 2020
Link: https://doi.org/10.1371/..
 
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8

Response to Letter to the Editor: "Forty-One Individuals wi..:

García-Castaño, Alejandro ; Madariaga, Leire ; Pérez de Nanclares, Gustavo...
The Journal of Clinical Endocrinology & Metabolism.  105 (2020)  7 - p. e2687-e2688 , 2020
Link: https://doi.org/10.1210/..
 
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9

Forty-One Individuals With Mutations in the AVP-NPII Gene A..:

García-Castaño, Alejandro ; Madariaga, Leire ; Pérez de Nanclares, Gustavo...
The Journal of Clinical Endocrinology & Metabolism.  105 (2020)  4 - p. 1112-1118 , 2020
Link: https://doi.org/10.1210/..
 
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10

Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards..:

Martínez de LaPiscina, Idoia ; Mahmoud, Rana AA ; Sauter, Kay-Sara...
International Journal of Molecular Sciences.  21 (2020)  22 - p. 8554 , 2020
Link: https://doi.org/10.3390/..
 
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11

Broad Phenotypes of Disorders/Differences of Sex Developmen..:

Flück, Christa E. ; Audí, Laura ; Fernández-Cancio, Mónica...
Frontiers in Genetics.  10 (2019)  - p. , 2019
Link: https://doi.org/10.3389/..
 
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12

Negative autoimmunity in a Spanish pediatric cohort suspect..:

Urrutia, Inés ; Martínez, Rosa ; Rica, Itxaso...
PLOS ONE.  14 (2019)  7 - p. e0220634 , 2019
Link: https://doi.org/10.1371/..
 
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13

GATA4 Variants in Individuals With a 46,XY Disorder of Sex ..:

Martinez de LaPiscina, Idoia ; de Mingo, Carmen ; Riedl, Stefan...
Frontiers in Endocrinology.  9 (2018)  - p. , 2018
Link: https://doi.org/10.3389/..
 
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14

Identification of a novel large CASR deletion in a patient ..:

García-Castaño, Alejandro ; Madariaga, Leire ; Azriel, Sharona...
Endocrinology, Diabetes & Metabolism Case Reports.  2018 (2018)  - p. , 2018
Link: https://doi.org/10.1530/..
 
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15

Lower Frequency of HLA-DRB1 Type 1 Diabetes Risk Alleles in..:

Urrutia, Inés ; Martínez, Rosa ; López-Euba, Tamara...
PLOS ONE.  12 (2017)  1 - p. e0169389 , 2017
Link: https://doi.org/10.1371/..
 
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