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Baena, Neus
94
results:
Search for persons
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Online (94)
Mediatypes
Articles (Online) (36)
OpenAccess-fulltext (58)
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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
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/..
?
7
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/..
?
8
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/..
?
9
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/..
?
10
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/..
?
11
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/..
?
12
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/..
?
13
Identification of a de novo splicing variant in the Coffin–..:
Aguilera, Cinthia
;
Gabau, Elisabeth
;
Laurie, Steve
...
Molecular Genetics & Genomic Medicine. 7 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1002/..
?
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
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/..
1-15