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Ballesta-Martínez, María Juliana
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1

Adult syndromology: challenges, opportunities and perspecti..:

Schmetz MD, Ariane ; Ballesta-Martínez, Maria Juliana ; Isidor, Bertrand...
Medizinische Genetik.  36 (2024)  2 - p. 95-102 , 2024
Link: https://doi.org/10.1515/..
 
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2

A Novel Mutation Associated with Neonatal Lethal Cardiomyop..:

Amate-García, Guillermo ; Ballesta-Martínez, María Juliana ; Serrano-Lorenzo, Pablo...
International Journal of Molecular Sciences.  24 (2023)  2 - p. 1743 , 2023
Link: https://doi.org/10.3390/..
 
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3

Clinical Heterogeneity and Different Phenotypes in Patients..:

Parra, Alejandro ; Rabin, Rachel ; Pappas, John...
Genes.  14 (2023)  6 - p. 1179 , 2023
Link: https://doi.org/10.3390/..
 
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4

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

Ballesta-Martínez, María Juliana ; Pérez-Fernández, Virginia ; López-González, Vanesa...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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5

Expresividad extremadamente variable en el síndrome de Smit..:

Sánchez-Soler, María José ; Serrano-Antón, Ana Teresa ; López-González, Vanesa..
Anales de Pediatría.  96 (2022)  3 - p. 253-255 , 2022
Link: https://doi.org/10.1016/..
 
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6

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

Sánchez-Soler, María José ; Serrano-Antón, Ana Teresa ; López-González, Vanesa..
Anales de Pediatría (English Edition).  96 (2022)  3 - p. 253-255 , 2022
Link: https://doi.org/10.1016/..
 
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7

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

Buendía-Martínez, Juan ; Barreda-Sánchez, María ; Rodríguez-Peña, Lidya...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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8

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

Sánchez Soler, María José ; López-González, Vanesa ; Ballesta-Martínez, María Juliana...
Anales de Pediatría.  95 (2021)  6 - p. 448-458 , 2021
Link: https://doi.org/10.1016/..
 
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9

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

Sánchez Soler, María José ; López-González, Vanesa ; Ballesta-Martínez, María Juliana...
Anales de Pediatría (English Edition).  95 (2021)  6 - p. 448-458 , 2021
Link: https://doi.org/10.1016/..
 
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10

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

Quijada-Fraile, Pilar ; Arranz Canales, Elena ; Martín-Hernández, Elena...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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11

Assessment of psychomotor development of Spanish children u..:

Sánchez-Soler, María José ; López-González, Vanesa ; Ballesta-Martínez, María Juliana...
Anales de Pediatría (English Edition).  92 (2020)  4 - p. 200-207 , 2020
Link: https://doi.org/10.1016/..
 
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12

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

Sánchez-Soler, María José ; López-González, Vanesa ; Ballesta-Martínez, María Juliana...
Anales de Pediatría.  92 (2020)  4 - p. 200-207 , 2020
Link: https://doi.org/10.1016/..
 
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13

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

GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia) ; Martínez-Romero, María Carmen ; Ballesta-Martínez, María Juliana...
Orphanet Journal of Rare Diseases.  14 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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14

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

Barreda-Sánchez, María ; Buendía-Martínez, Juan ; Glover-López, Guillermo...
Orphanet Journal of Rare Diseases.  14 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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15

Further refinement of COL4A1 and COL4A2 related cortical ma..:

Cavallin, Mara ; Mine, Manuele ; Philbert, Marion...
European Journal of Medical Genetics.  61 (2018)  12 - p. 765-772 , 2018
Link: https://doi.org/10.1016/..
 
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