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Millá, Carmen
241
results:
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Online (241)
Mediatypes
Articles (Online) (69)
Bookchapter (Online) (2)
OpenAccess-fulltext (170)
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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
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/..
?
5
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/..
?
6
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/..
?
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
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/..
?
11
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/..
?
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
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/..
1-15