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Martínez-Azorín, Francisco
272  results:
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1

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/..
 
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2

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/..
 
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3

FDXR variants cause adrenal insufficiency and atypical sexu..:

Pignatti, Emanuele ; Slone, Jesse ; Gómez Cano, María Ángeles...
JCI Insight.  , 2024
Link: https://doi.org/10.1172/..
 
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4

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/..
 
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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/..
 
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6

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/..
 
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7

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/..
 
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8

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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9

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/..
 
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10

Bi-allelic missense disease-causing variants in RPL3L assoc..:

Ganapathi, Mythily ; Argyriou, Loukas ; Martínez-Azorín, Francisco...
Human Genetics.  139 (2020)  11 - p. 1443-1454 , 2020
Link: https://doi.org/10.1007/..
 
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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/..
 
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12

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Syna..:

Salpietro, Vincenzo ; Malintan, Nancy T. ; Llano-Rivas, Isabel...
The American Journal of Human Genetics.  104 (2019)  4 - p. 721-730 , 2019
Link: https://doi.org/10.1016/..
 
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13

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/..
 
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14

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/..
 
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15

Author's Reply: TK2-related Myopathic Mitochondrial Depleti..:

Martín-Hernández, Elena ; Martínez-Azorín, Francisco
Pediatric and Developmental Pathology.  21 (2017)  5 - p. 509-510 , 2017
Link: https://doi.org/10.1177/..
 
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