Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Palma-Milla, Carmen
165  Ergebnisse:
Personensuche X
?
1

Cystic phenotype and chronic kidney disease in autosomal do..:

Bada-Bosch, Teresa ; Sevillano, Angel M ; Sánchez-Calvin, María Teresa...
Nephrology Dialysis Transplantation.  , 2024
Link: https://doi.org/10.1093/..
 
?
2

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac,..:

Palma-Milla, Carmen ; Prat-Planas, Aina ; Soengas-Gonda, Emma...
Pediatric Neurology.  155 (2024)  - p. 8-17 , 2024
Link: https://doi.org/10.1016/..
 
?
3

Clinical, Biochemical, and Molecular Characterization of Tw..:

Serrano-Lorenzo, Pablo ; Rabasa, María ; Esteban, Jesús...
Genes.  13 (2022)  10 - p. 1835 , 2022
Link: https://doi.org/10.3390/..
 
?
4

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of ..:

Gómez-Rodríguez, Maria Jose ; Morales-Conejo, Montserrat ; Arteche-López, Ana...
Genes.  13 (2022)  9 - p. 1609 , 2022
Link: https://doi.org/10.3390/..
 
?
5

First female with Allan-Herndon-Dudley syndrome and partial..:

Quesada-Espinosa, Juan F. ; Garzón-Lorenzo, Lucía ; Lezana-Rosales, José M....
neurogenetics.  22 (2021)  4 - p. 343-346 , 2021
Link: https://doi.org/10.1007/..
 
?
6

Heterozygous and Homozygous Variants in SORL1 Gene in Alzhe..:

Alvarez-Mora, Maria Isabel ; Blanco-Palmero, Victor Antonio ; Quesada-Espinosa, Juan Francisco...
International Journal of Molecular Sciences.  23 (2022)  8 - p. 4230 , 2022
Link: https://doi.org/10.3390/..
 
?
7

Hereditary cerebral small vessel disease: Assessment of a H..:

Hidalgo Mayoral, Irene ; Martínez-Salio, Antonio ; Llamas-Velasco, Sara...
European Journal of Medical Genetics.  65 (2022)  8 - p. 104539 , 2022
Link: https://doi.org/10.1016/..
 
?
8

Case report: A novel case of parental mosaicism in SMC1A ge..:

Gil-Salvador, Marta ; Latorre-Pellicer, Ana ; Lucia-Campos, Cristina...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
?
9

Clinical, Biochemical, and Molecular Characterization of Tw..:

Serrano-Lorenzo, Pablo ; Rabasa, María ; Esteban, Jesús...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601687/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
?
10

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of ..:

Gómez-Rodríguez, Maria Jose ; Morales-Conejo, Montserrat ; Arteche-López, Ana...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498456/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
?
11

Towards a Change in the Diagnostic Algorithm of Autism Spec..:

Arteche-López, Ana ; Gómez Rodríguez, Maria José ; Sánchez Calvin, Maria Teresa...
Genes.  12 (2021)  4 - p. 560 , 2021
Link: https://doi.org/10.3390/..
 
?
12

First patient with mosaic NOTCH3 gene pathogenic variant. U..:

Moreno‐García, Marta ; Arteche‐López, Ana Rosa ; Álvarez‐Mora, María Isabel...
American Journal of Medical Genetics Part A.  185 (2020)  2 - p. 591-595 , 2020
Link: https://doi.org/10.1002/..
 
?
13

De novoSEC61A1 mutation in autosomal dominant tubulo‐inters..:

Espino‐Hernández, Mar ; Palma Milla, Carmen ; Vara‐Martín, Julia.
Journal of Paediatrics and Child Health.  57 (2020)  8 - p. 1305-1307 , 2020
Link: https://doi.org/10.1111/..
 
?
14

The solitary median maxillary central incisor (SMMCI) syndr..:

Garcia Rodriguez, Raquel ; Garcia Cruz, Loida ; Novoa Medina, Yeray...
Prenatal Diagnosis.  39 (2019)  6 - p. 415-419 , 2019
Link: https://doi.org/10.1002/..
 
?
15

Myotonia congenita: mutation spectrum of CLCN1 in Spanish p..:

Palma Milla, Carmen ; Prior De Castro, Carmen ; Gómez-González, Clara...
Journal of Genetics.  98 (2019)  3 - p. , 2019
Link: https://doi.org/10.1007/..
 
1-15