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1

What is new about the genetic background of Hirschsprung di..:

Luzón‐Toro, Berta ; Villalba‐Benito, Leticia ; Torroglosa, Ana...
Clinical Genetics. 97 (2019) 1 - p. 114-124 , 2019

Link: https://doi.org/10.1111/..

2

Correlation between SMA type and SMN2 copy number revisited..:

Calucho, Maite ; Bernal, Sara ; Alías, Laura...
Neuromuscular Disorders. 28 (2018) 3 - p. 208-215 , 2018

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

3

A Scoring System to Predict the Severity of Hirschsprung Di..:

Núñez-Ramos, Raquel ; Fernández, Raquel M ; González-Velasco, Miguel...
Pediatric and Developmental Pathology. 20 (2017) 1 - p. 28-37 , 2017

Link: https://doi.org/10.1177/..

4

Trans-ethnic meta-analysis of genome-wide association studi..:

Tang, Clara Sze-man ; Gui, Hongsheng ; Kapoor, Ashish...
Human Molecular Genetics. , 2016

Link: https://doi.org/10.1093/..

5

A Scoring System to Predict the Severity of Hirschsprung Di..:

Núñez-Ramos, Raquel ; Fernández, Raquel M. ; González-Velasco, Miguel...
Pediatric and Developmental Pathology. , 2016

Link: https://doi.org/10.2350/..

6

Co-segregation of a homozygousSMN1deletion and a heterozygo..:

Fernández, Raquel M. ; Peciña, Ana ; Muñoz-Cabello, Beatriz..
Clinical Case Reports. 4 (2016) 9 - p. 879-884 , 2016

Link: https://doi.org/10.1002/..

7

Interstitial 10p deletion derived from a maternal ins(16;10..:

Fernández, Raquel M. ; Sánchez, Javier ; García‐Díaz, Lutgardo...
American Journal of Medical Genetics Part A. 170 (2016) 5 - p. 1268-1273 , 2016

Link: https://doi.org/10.1002/..

8

Identification of epistatic interactions through genome-wid..:

Luzón-Toro, Berta ; Bleda, Marta ; Navarro, Elena...
BMC Medical Genomics. 8 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

9

Experience of Preimplantation Genetic Diagnosis for Hemophi..:

Fernández, Raquel M. ; Peciña, Ana ; Sánchez, Beatriz...
BioMed Research International. 2015 (2015) - p. 1-8 , 2015

Link: https://doi.org/10.1155/..

10

Clinical and Technical Overview of Preimplantation Genetic ..:

Fernández, Raquel M. ; Peciña, Ana ; Lozano-Arana, Maria Dolores...
BioMed Research International. 2015 (2015) - p. 1-6 , 2015

Link: https://doi.org/10.1155/..

11

Exome sequencing reveals a high genetic heterogeneity on fa..:

Luzón-Toro, Berta ; Gui, Hongsheng ; Ruiz-Ferrer, Macarena...
Scientific Reports. 5 (2015) 1 - p. , 2015

Link: https://doi.org/10.1038/..

12

Novel One-Step Multiplex PCR-Based Method for HLA Typing an..:

Fernández, Raquel M. ; Peciña, Ana ; Lozano-Arana, Maria Dolores...
BioMed Research International. 2013 (2013) - p. 1-9 , 2013

Link: https://doi.org/10.1155/..

13

Waardenburg syndrome type 4: Report of two new cases caused..:

Fernández, Raquel M. ; Núñez‐Ramos, Raquel ; Enguix‐Riego, Mª Valle...
American Journal of Medical Genetics Part A. 164 (2013) 2 - p. 542-547 , 2013

Link: https://doi.org/10.1002/..

14

Contribution of rare and common variants determine complex ..:

Alves, Maria M. ; Sribudiani, Yunia ; Brouwer, Rutger W.W....
Developmental Biology. 382 (2013) 1 - p. 320-329 , 2013

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

15

Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Gene..:

Luzón-Toro, Berta ; Fernández, Raquel M. ; Torroglosa, Ana...
PLoS ONE. 8 (2013) 1 - p. e54800 , 2013

Link: https://doi.org/10.1371/..

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