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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/..

2

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/..

3

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/..

4

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/..

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/..

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

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/..

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/..

15

New GJA8 variants and phenotypes highlight its critical rol..:

DDD Study ; Ceroni, Fabiola ; Aguilera-Garcia, Domingo...
Human Genetics. 138 (2018) 8-9 - p. 1027-1042 , 2018

Link: https://doi.org/10.1007/..

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