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Orellana, Carmen
617
results:
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Online (617)
Mediatypes
Articles (Online) (149)
Bookchapter (Online) (4)
OpenAccess-fulltext (464)
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english (333)
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spanish (207)
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1
New variants expand the neurological phenotype of COQ7 defi..:
Fabra, María Alcázar
;
Paredes‐Fuentes, Abraham J.
;
Torralba Carnerero, Manuel
...
Journal of Inherited Metabolic Disease. , 2024
Link:
https://doi.org/10.1002/..
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2
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2..:
Gabaldon-Albero, Alba
;
Cordon, Lourdes
;
Sempere, Amparo
...
Genes. 15 (2024) 6 - p. 802 , 2024
Link:
https://doi.org/10.3390/..
?
3
Biallelic variants in PIGN cause Fryns syndrome, multiple c..:
Loong, Lucy
;
Tardivo, Agostina
;
Knaus, Alexej
...
Genetics in Medicine. 25 (2023) 1 - p. 37-48 , 2023
Link:
https://doi.org/10.1016/..
?
4
Variability in Phelan-McDermid Syndrome in a Cohort of 210 ..:
Nevado, Julián
;
García-Miñaúr, Sixto
;
Palomares-Bralo, María
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
5
Prevalence of pathogenic copy number variants among childre..:
Monfort, Sandra
;
Orellana, Carmen
;
Oltra, Silvestre
...
Scientific Reports. 11 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
?
6
Front Cover:
Pascual‐Alonso, Ainhoa
;
Blasco, Laura
;
Vidal, Silvia
...
Clinical Genetics. 97 (2020) 4 - p. , 2020
Link:
https://doi.org/10.1111/..
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7
Hidden etiology of cerebral palsy: genetic and clinical het..:
Rosello, Monica
;
Caro-Llopis, Alfonso
;
Orellana, Carmen
...
Pediatric Research. 90 (2020) 2 - p. 284-288 , 2020
Link:
https://doi.org/10.1038/..
?
8
Molecular characterization of Spanish patients with MECP2 d..:
Pascual‐Alonso, Ainhoa
;
Blasco, Laura
;
Vidal, Silvia
...
Clinical Genetics. 97 (2020) 4 - p. 610-620 , 2020
Link:
https://doi.org/10.1111/..
?
9
A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Sy..:
D. Hidalgo-Santos, Antonio
;
del Carmen DeMingo-Alemany, Maria
;
Moreno-Macián, Francisca
...
International Journal of Endocrinology and Metabolism. In Press (2018) In Press - p. , 2018
Link:
https://doi.org/10.5812/..
?
10
Generation of a disease-specific iPS cell line derived from..:
Martí, Salvador
;
León, Marian
;
Orellana, Carmen
...
Stem Cell Research. 18 (2017) - p. 1-4 , 2017
Link:
https://doi.org/10.1016/..
?
11
Chimeric Genes in Deletions and Duplications Associated wit..:
Mayo, Sonia
;
Monfort, Sandra
;
Roselló, Mónica
...
International Journal of Genomics. 2017 (2017) - p. 1-11 , 2017
Link:
https://doi.org/10.1155/..
?
12
De novo mutations in genes of mediator complex causing synd..:
Caro-Llopis, Alfonso
;
Rosello, Monica
;
Orellana, Carmen
...
Pediatric Research. 80 (2016) 6 - p. 809-815 , 2016
Link:
https://doi.org/10.1038/..
?
13
Haploinsufficiency of the MYT1L gene causes intellectual di..:
Mayo, Sonia
;
Roselló, Mónica
;
Monfort, Sandra
...
Genetics in Medicine. 17 (2015) 8 - p. 683-684 , 2015
Link:
https://doi.org/10.1038/..
?
14
Infectious and Immunologic Phenotype of MECP2 Duplication S..:
Bauer, Michael
;
Kölsch, Uwe
;
Krüger, Renate
...
Journal of Clinical Immunology. 35 (2015) 2 - p. 168-181 , 2015
Link:
https://doi.org/10.1007/..
?
15
Multi‐system involvement in a severe variant of fibrodyspla..:
Kaplan, Frederick S.
;
Kobori, Joyce A.
;
Orellana, Carmen
...
American Journal of Medical Genetics Part A. 167 (2015) 10 - p. 2265-2271 , 2015
Link:
https://doi.org/10.1002/..
1-15