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María Juliana Ballesta-Martínez
128  results:
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1

Validation of clinical exome sequencing in the diagnostic p..:

María Juliana Ballesta-Martínez ; Virginia Pérez-Fernández ; Vanesa López-González...
https://doi.org/10.1186/s13023-023-02809-z.  , 2023
Link: https://doi.org/10.1186/..
 
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2

A Novel Mutation Associated with Neonatal Lethal Cardiomyop..:

Guillermo Amate-García ; María Juliana Ballesta-Martínez ; Pablo Serrano-Lorenzo...
Molecular Genetics and Genomics.  , 2023
Link: https://doi.org/10.3390/..
 
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3

A Novel Mutation Associated with Neonatal Lethal Cardiomyop..:

Guillermo Amate-García ; María Juliana Ballesta-Martínez ; Pablo Serrano-Lorenzo...
https://www.mdpi.com/1422-0067/24/2/1743.  , 2023
Link: https://doi.org/10.3390/..
 
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4

Clinical Heterogeneity and Different Phenotypes in Patients..:

Alejandro Parra ; Rachel Rabin ; John Pappas...
https://www.mdpi.com/2073-4425/14/6/1179.  , 2023
Link: https://doi.org/10.3390/..
 
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5

Clinical Heterogeneity and Different Phenotypes in Patients..:

Alejandro Parra ; Rachel Rabin ; John Pappas...
Human Genomics and Genetic Diseases.  , 2023
Link: https://doi.org/10.3390/..
 
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6

Extremely variable expressivity in Smith-Lemli-Opitz syndro..:

María José Sánchez-Soler ; Ana Teresa Serrano-Antón ; Vanesa López-González..
http://www.sciencedirect.com/science/article/pii/S234128792200031X.  , 2022
Link: https://doi.org/10.1016/..
 
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7

Expresividad extremadamente variable en el síndrome de Smit..:

María José Sánchez-Soler ; Ana Teresa Serrano-Antón ; Vanesa López-González..
http://www.sciencedirect.com/science/article/pii/S169540332100165X.  , 2022
Link: https://doi.org/10.1016/..
 
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8

Health impact of acute intermittent porphyria in latent and..:

Juan Buendía-Martínez ; María Barreda-Sánchez ; Lidya Rodríguez-Peña...
https://doi.org/10.1186/s13023-021-01742-3.  , 2021
Link: https://doi.org/10.1186/..
 
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9

Riesgo de malformaciones mayores y menores en niños concebi..:

María José Sánchez Soler ; Vanesa López-González ; María Juliana Ballesta-Martínez...
http://www.sciencedirect.com/science/article/pii/S1695403321002204.  , 2021
Link: https://doi.org/10.1016/..
 
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10

Risk of mayor and minor birth defects in children conceived..:

María José Sánchez Soler ; Vanesa López-González ; María Juliana Ballesta-Martínez...
http://www.sciencedirect.com/science/article/pii/S2341287921001861.  , 2021
Link: https://doi.org/10.1016/..
 
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11

Clinical features and health-related quality of life in adu..:

Pilar Quijada-Fraile ; Elena Arranz Canales ; Elena Martín-Hernández...
https://doi.org/10.1186/s13023-021-02074-y.  , 2021
Link: https://doi.org/10.1186/..
 
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12

Assessment of psychomotor development of Spanish children u..:

María José Sánchez-Soler ; Vanesa López-González ; María Juliana Ballesta-Martínez...
http://www.sciencedirect.com/science/article/pii/S2341287920300296.  , 2020
Link: https://doi.org/10.1016/..
 
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13

Evaluación del desarrollo psicomotor hasta los 3 años de ed..:

María José Sánchez-Soler ; Vanesa López-González ; María Juliana Ballesta-Martínez...
http://www.sciencedirect.com/science/article/pii/S1695403319302620.  , 2020
Link: https://doi.org/10.1016/..
 
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14

High penetrance of acute intermittent porphyria in a Spanis..:

María Barreda-Sánchez ; Juan Buendía-Martínez ; Guillermo Glover-López...
http://link.springer.com/article/10.1186/s13023-019-1031-7.  , 2019
Link: https://doi.org/10.1186/..
 
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15

EDA, EDAR, EDARADD and WNT10A allelic variants in patients ..:

María Carmen Martínez-Romero ; María Juliana Ballesta-Martínez ; Vanesa López-González...
https://doi.org/10.1186/s13023-019-1251-x.  , 2019
Link: https://doi.org/10.1186/..
 
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