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

Measuring Vibrational Modes in Living Human Cells:

Puerto-Belda, Verónica ; Ruz, Jose J. ; Millá, Carmen...
PRX Life.  2 (2024)  1 - p. , 2024
Link: https://doi.org/10.1103/..
 
?
2

Leber hereditary optic neuropathy: Usefulness of next gener..:

Carrasco Salas, Pilar ; Milla, Carmen Palma ; Montiel, Javier López...
Medicina Clínica (English Edition).  146 (2016)  4 - p. 163-166 , 2016
Link: https://doi.org/10.1016/..
 
?
3

A novel mutation in the β-spectrin gene causes the activati..:

Salas, Pilar Carrasco ; Rosales, José Miguel Lezana ; Milla, Carmen Palma..
Human Genome Variation.  2 (2015)  1 - p. , 2015
Link: https://doi.org/10.1038/..
 
?
4

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/..
 
?
5

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/..
 
?
6

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/..
 
?
7

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/..
 
?
8

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/..
 
?
9

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/..
 
?
10

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/..
 
?
11

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/..
 
?
12

Neurofibromatosis type I: mutation spectrum of NF1 in spani..:

Palma Milla, Carmen ; Lezana Rosales, José Miguel ; López Montiel, Javier...
Annals of Human Genetics.  82 (2018)  6 - p. 425-436 , 2018
Link: https://doi.org/10.1111/..
 
?
13

Hyperinsulinemic hypoglycemia in a patient with an intragen..:

Carrasco Salas, Pilar ; Palma Milla, Carmen ; Lezana Rosales, José Miguel...
American Journal of Medical Genetics Part A.  170 (2015)  2 - p. 544-546 , 2015
Link: https://doi.org/10.1002/..
 
?
14

A novel mutation in the β-spectrin gene causes the activati..:

Salas, Pilar Carrasco ; Rosales, José Miguel Lezana ; Milla, Carmen Palma..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785562/.  , 2015
Link: http://www.ncbi.nlm.nih...
 
?
15

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/..
 
1-15