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Sánchez‐Calvín, María Teresa
22  Ergebnisse:
Personensuche X
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1

PIK3CA‐related overgrowth spectrum: concurrence of multiple..:

Tous‐Romero, Fátima ; Quesada‐Espinosa, Juan Francisco ; Sánchez‐Calvín, María Teresa..
JDDG: Journal der Deutschen Dermatologischen Gesellschaft.  16 (2018)  5 - p. 603-605 , 2018
Link: https://doi.org/10.1111/..
 
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2

PIK3CA‐assoziiertes Überwuchsspektrum: gleichzeitiges Auftr..:

Tous‐Romero, Fátima ; Quesada‐Espinosa, Juan Francisco ; Sánchez‐Calvín, María Teresa..
JDDG: Journal der Deutschen Dermatologischen Gesellschaft.  16 (2018)  5 - p. 603-605 , 2018
Link: https://doi.org/10.1111/..
 
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3

Genetic diagnosis of childhood sensorineural hearing loss:

Reda del Barrio, Sara ; García Fernández, Alfredo ; Quesada-Espinosa, Juan Francisco...
Acta Otorrinolaringologica (English Edition).  75 (2024)  2 - p. 83-93 , 2024
Link: https://doi.org/10.1016/..
 
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4

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/..
 
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5

Diagnostic yield of genetic testing in adults with sensorin..:

Reda del Barrio, Sara ; de Vergas Gutiérrez, Joaquín ; Quesada-Espinosa, Juan Francisco...
Acta Otorrinolaringologica (English Edition).  75 (2024)  3 - p. 185-191 , 2024
Link: https://doi.org/10.1016/..
 
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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/..
 
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7

Epilepsy and Autism spectrum disorder caused by a pathogeni..:

Bellido-Cuéllar, Sara ; Pérez de la Fuente, Rubén ; Lezana-Rosales, José Miguel...
Seizure: European Journal of Epilepsy.  110 (2023)  - p. 117-118 , 2023
Link: https://doi.org/10.1016/..
 
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8

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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9

Genetic diagnosis of Duchenne and Becker muscular dystrophy..:

Segarra-Casas, Alba ; Domínguez-González, Cristina ; Hernández-Laín, Aurelio...
Journal of Medical Genetics.  60 (2022)  6 - p. 615-619 , 2022
Link: https://doi.org/10.1136/..
 
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10

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/..
 
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11

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/..
 
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12

Adult-onset distal spinal muscular atrophy: a new phenotype..:

de Fuenmayor-Fernández de la Hoz, Carlos Pablo ; Hernández-Laín, Aurelio ; Olivé, Montse...
Brain.  142 (2019)  12 - p. e66-e66 , 2019
Link: https://doi.org/10.1093/..
 
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13

New genetic mutation associated with Pierson syndrome:

Peña-González, Lorena ; Guerra-García, Pilar ; Sánchez-Calvín, María Teresa..
Anales de Pediatría (English Edition).  85 (2016)  6 - p. 321-322 , 2016
Link: https://doi.org/10.1016/..
 
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14

Genetic diagnosis of Duchenne and Becker muscular dystrophy..:

Segarra-Casas, Alba ; Domínguez-González, Cristina ; Hernández-Laín, Aurelio...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10313949/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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15

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

Maria Jose Gómez-Rodríguez ; Montserrat Morales-Conejo ; Ana Arteche-López...
https://www.mdpi.com/2073-4425/13/9/1609.  , 2022
Link: https://doi.org/10.3390/..
 
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