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1

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/..

2

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/..

3

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/..

4

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/..

5

Primer caso español de discapacidad intelectual sindrómica ..:

Sánchez-Soler, María José ; Serrano-Antón, Ana Teresa ; López-González, Vanesa..
Anales de Pediatría. 92 (2020) 3 - p. 169-171 , 2020

Link: https://doi.org/10.1016/..

6

First Spanish case of syndromic intellectual disability wit..:

Sánchez-Soler, María José ; Serrano-Antón, Ana Teresa ; López-González, Vanesa..
Anales de Pediatría (English Edition). 92 (2020) 3 - p. 169-171 , 2020

Link: https://doi.org/10.1016/..

7

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/..

8

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/..

9

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

Ballesta-Martínez, María Juliana ; Pérez-Fernández, Virginia ; López-González, Vanesa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362575/. , 2023

Link: http://www.ncbi.nlm.nih...

10

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

Buendía-Martínez, Juan ; Barreda-Sánchez, María ; Rodríguez-Peña, Lidya...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913433/. , 2021

Link: http://www.ncbi.nlm.nih...

11

Arthralgias and Articular Hyperlaxitude in Women with Ophth..:

Gallo Puelles, Francisco ; Serrano Anton, Ana Teresa ; Lopez Gonzalez, Vanesa.
Reumatología Clínica (English Edition). 16 (2020) 5 - p. 423-425 , 2020

Link: https://doi.org/10.1016/..

12

Snijders Blok–Campeau Syndrome: Description of 20 Additiona..:

Pascual, Patricia ; Tenorio-Castano, Jair ; Mignot, Cyril...
Genes. 14 (2023) 9 - p. 1664 , 2023

Link: https://doi.org/10.3390/..

13

The Expanding Phenotypical Spectrum of WARS2-Related Disord..:

Pauly, Martje G ; Korenke, G. Christoph ; Diaw, Sokhna Haissatou...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137540/. , 2023

Link: http://www.ncbi.nlm.nih...

14

The Expanding Phenotypical Spectrum of WARS2 -Related Disor..:

Pauly, Martje G ; Korenke, G. Christoph ; Diaw, Sokhna Haissatou...
Instituto de Salud Carlos III PI21/00248. , 2023

Link: https://ddd.uab.cat/reco..

15

Trabajo a turnos como factor de riesgo psicosocial en el pe..:

Serrano Antón, Ana Teresa
http://dspace.umh.es/handle/11000/27401. , 2021

Link: http://dspace.umh.es/han..

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