E-LIB Suche - Ergebnisse für: Baena, Neus

1

Novel 14q32.2 paternal deletion encompassing the whole DLK1..:

Baena, Neus ; Monk, David ; Aguilera, Cinthia...
Clinical Epigenetics. 16 (2024) 1 - p. , 2024

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

2

Case report: Identification of a novel variant p.Gly215Arg ..:

Manso-Bazús, Carmen ; Spataro, Nino ; Gabau, Elisabeth...
Frontiers in Genetics. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

3

Genetic testing for familial hyperparathyroidism: clinical-..:

Mazarico-Altisent, Isabel ; Capel, Ismael ; Baena, Neus...
Frontiers in Endocrinology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

4

High Performance of a Dominant/X-Linked Gene Panel in Patie..:

Spataro, Nino ; Trujillo-Quintero, Juan Pablo ; Manso, Carmen...
Genes. 14 (2023) 3 - p. 708 , 2023

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

5

Genetic study in primary hyperparathyroidism: Which patient..:

Capel, Ismael ; Mazarico-Altisent, Isabel ; Baena, Neus
Endocrinología, Diabetes y Nutrición (English ed.). 69 (2022) 4 - p. 237-239 , 2022

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

6

New genes involved in Angelman syndrome-like: Expanding the..:

Aguilera, Cinthia ; Gabau, Elisabeth ; Ramirez-Mallafré, Ariadna...
PLOS ONE. 16 (2021) 10 - p. e0258766 , 2021

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

7

W51. HIGH DIAGNOSTIC YIELD IN CHILDREN AND ADOLESCENTS WITH..:

Bazús, Carmen Manso ; Torrent, Lidia ; Ruiz, Anna...
European Neuropsychopharmacology. 51 (2021) - p. e171 , 2021

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

8

Author Correction: The utility of Next Generation Sequencin..:

Vidal, Silvia ; Brandi, Núria ; Pacheco, Paola...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

9

The most recurrent monogenic disorders that overlap with th..:

Vidal, S. ; Brandi, N. ; Pacheco, P....
European Journal of Paediatric Neurology. 23 (2019) 4 - p. 609-620 , 2019

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

10

X chromosome inactivation does not necessarily determine th..:

Xiol, Clara ; Vidal, Silvia ; Pascual-Alonso, Ainhoa...
Scientific Reports. 9 (2019) 1 - p. , 2019

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

11

Mutational spectrum by phenotype: panel‐based NGS testing o..:

Castellanos, Elisabeth ; Rosas, Inma ; Negro, Alex...
Clinical Genetics. 97 (2019) 2 - p. 264-275 , 2019

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

12

Correction: Arterial tortuosity syndrome: 40 new families a..:

Beyens, Aude ; Albuisson, Juliette ; Boel, Annekatrien...
Genetics in Medicine. 21 (2019) 8 - p. 1894-1895 , 2019

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

13

Neurodevelopmental risk copy number variants in adults with..:

Thygesen, Johan H. ; Wolfe, Kate ; McQuillin, Andrew...
British Journal of Psychiatry. 212 (2018) 5 - p. 287-294 , 2018

Link: https://doi.org/10.1192/..

14

High Incidence of Copy Number Variants in Adults with Intel..:

Viñas-Jornet, Marina ; Esteba-Castillo, Susanna ; Baena, Neus...
Behavior Genetics. 48 (2018) 4 - p. 323-336 , 2018

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

15

Variabilidad fenotípica en 13 casos de deleción 16p11.2:

Rodà, Diana ; Gabau, Elisabeth ; Baena, Neus.
Anales de Pediatría. 89 (2018) 1 - p. 62-63 , 2018

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