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Cotrina‐Vinagre, Francisco Javier
15
results:
Search for persons
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Online (15)
Mediatypes
Articles (Online) (13)
OpenAccess-fulltext (2)
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1
MAST1 variant causes mega‐corpus‐callosum syndrome with cor..:
Rodríguez‐García, María Elena
;
Cotrina‐Vinagre, Francisco Javier
;
Gómez‐Cano, María de los Ángeles
...
American Journal of Medical Genetics Part A. 182 (2020) 6 - p. 1483-1490 , 2020
Link:
https://doi.org/10.1002/..
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2
A rare male patient with Fontaine progeroid syndrome caused..:
Rodríguez‐García, María Elena
;
Cotrina‐Vinagre, Francisco Javier
;
Cruz‐Rojo, Jaime
...
American Journal of Medical Genetics Part A. 176 (2018) 11 - p. 2479-2486 , 2018
Link:
https://doi.org/10.1002/..
?
3
Expanding the genetic and phenotypic spectrum of Baker–Gord..:
Cotrina-Vinagre, Francisco Javier
;
Rodríguez-García, María Elena
;
Del Pozo-Filíu, Lucía
..
Journal of Genetics. 103 (2024) 2 - p. , 2024
Link:
https://doi.org/10.1007/..
?
4
Expanding the genetic and phenotypic spectrum of congenital..:
Cotrina-Vinagre, Francisco Javier
;
Rodríguez-García, María Elena
;
del Pozo-Filíu, Lucía
...
Journal of Human Genetics. 69 (2024) 5 - p. 187-196 , 2024
Link:
https://doi.org/10.1038/..
?
5
Correction: A novel de novo variant in CASK causes a severe..:
Rodríguez-García, María Elena
;
Cotrina-Vinagre, Francisco Javier
;
Olson, Alexandra N.
...
Journal of Human Genetics. 68 (2023) 8 - p. 577-577 , 2023
Link:
https://doi.org/10.1038/..
?
6
A novel de novo variant in CASK causes a severe neurodevelo..:
Rodríguez-García, María Elena
;
Cotrina-Vinagre, Francisco Javier
;
Olson, Alexandra N.
...
Journal of Human Genetics. 68 (2023) 8 - p. 543-550 , 2023
Link:
https://doi.org/10.1038/..
?
7
MLIP causes recessive myopathy with rhabdomyolysis, myalgia..:
Lopes Abath Neto, Osorio
;
Medne, Livija
;
Donkervoort, Sandra
...
Brain. 144 (2021) 9 - p. 2722-2731 , 2021
Link:
https://doi.org/10.1093/..
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8
Characterization of a complex phenotype (fever-dependent re..:
Cotrina-Vinagre, Francisco Javier
;
Rodríguez-García, María Elena
;
Martín-Hernández, Elena
...
Molecular Genetics and Metabolism. 133 (2021) 2 - p. 201-210 , 2021
Link:
https://doi.org/10.1016/..
?
9
New subtype of PCH1C caused by novel EXOSC8 variants in a 1..:
Rodríguez-García, María Elena
;
Cotrina-Vinagre, Francisco Javier
;
Bellusci, Marcello
...
Neuromuscular Disorders. 31 (2021) 8 - p. 773-782 , 2021
Link:
https://doi.org/10.1016/..
?
10
A novel de novo mutation in the PURA gene associated with a..:
Rodríguez-García, María Elena
;
Cotrina-Vinagre, Francisco Javier
;
Arranz-Canales, Elena
...
Journal of Genetics. 99 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1007/..
?
11
A novel de novo MTOR gain-of-function variant in a patient ..:
Rodríguez-García, María Elena
;
Cotrina-Vinagre, Francisco Javier
;
Bellusci, Marcello
...
European Journal of Human Genetics. 27 (2019) 9 - p. 1369-1378 , 2019
Link:
https://doi.org/10.1038/..
?
12
Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic ..:
Martín-Hernández, Elena
;
Rodríguez-García, María Elena
;
Chen, Chun-An
...
Journal of Human Genetics. 63 (2018) 4 - p. 525-528 , 2018
Link:
https://doi.org/10.1038/..
?
13
An innovative strategy to clone positive modifier genes of ..:
Rodríguez-García, María Elena
;
Cotrina-Vinagre, Francisco Javier
;
Carnicero-Rodríguez, Patricia
.
Human Genetics. 136 (2017) 7 - p. 885-896 , 2017
Link:
https://doi.org/10.1007/..
?
14
MLIP causes recessive myopathy with rhabdomyolysis, myalgia..:
Lopes Abath Neto, Osorio
;
Medne, Livija
;
Donkervoort, Sandra
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536936/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
15
A novel de novo MTOR gain-of-function variant in a patient ..:
Rodríguez-García, María Elena
;
Cotrina-Vinagre, Francisco Javier
;
Bellusci, Marcello
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777539/. , 2019
Link:
http://www.ncbi.nlm.nih...
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