Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Orellana, Carmen
619  Ergebnisse:
Personensuche X
?
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/..
 
?
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/..
 
?
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