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Tenorio, Jair
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1

Variant characterisation and clinical profile in a large co..:

Altunoglu, Umut ; Palencia-Campos, Adrian ; Güneş, Nilay...
Journal of Medical Genetics.  61 (2024)  7 - p. 633-644 , 2024
Link: https://doi.org/10.1136/..
 
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2

Pain and health-related quality of life in patients with hy..:

Santurtún, Maite ; Mediavilla-Martinez, Eva ; Vega, Ana I....
Frontiers in Endocrinology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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3

Keratitis‐ichthyosis‐deafness syndrome with lethal p.Ala88V..:

López‐Sundh, Ana Elísabet ; Escribano‐Palomino, Esperanza ; Feito‐Rodríguez, Marta...
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 253-258 , 2022
Link: https://doi.org/10.1002/..
 
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4

Prenatal ultrasound findings in Koolen‐de Vries foetuses: C..:

García‐Santiago, Fe Amalia ; Martínez‐Payo, Cristina ; Mansilla, Elena...
Molecular Genetics & Genomic Medicine.  9 (2021)  5 - p. , 2021
Link: https://doi.org/10.1002/..
 
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5

Epigenome-wide association study of COVID-19 severity with ..:

Castro de Moura, Manuel ; Davalos, Veronica ; Planas-Serra, Laura...
eBioMedicine.  66 (2021)  - p. 103339 , 2021
Link: https://doi.org/10.1016/..
 
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6

The role of ZFP57 and additional KRAB-zinc finger proteins ..:

Monteagudo-Sánchez, Ana ; Hernandez Mora, Jose Ramon ; Simon, Carlos...
Nucleic Acids Research.  48 (2020)  20 - p. 11394-11407 , 2020
Link: https://doi.org/10.1093/..
 
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7

Characterization of rare ABCC8 variants identified in Spani..:

Lago-Docampo, Mauro ; Tenorio, Jair ; Hernández-González, Ignacio...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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8

Clinical heterogeneity of Pulmonary Arterial Hypertension a..:

Hernandez-Gonzalez, Ignacio ; Tenorio, Jair ; Palomino-Doza, Julian...
PLOS ONE.  15 (2020)  4 - p. e0232216 , 2020
Link: https://doi.org/10.1371/..
 
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9

Further definition of the proximal 19p13.3 microdeletion/mi..:

Tenorio, Jair ; Nevado, Julián ; González‐Meneses, Antonio...
Clinical Genetics.  97 (2020)  3 - p. 467-476 , 2020
Link: https://doi.org/10.1111/..
 
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10

A six-attribute classification of geneticmosaicism:

Martínez-Glez, Víctor ; Tenorio, Jair ; Nevado, Julián...
Genetics in Medicine.  22 (2020)  11 - p. 1743-1757 , 2020
Link: https://doi.org/10.1038/..
 
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11

Prediction models for voriconazole pharmacokinetics based o..:

Dapía, Irene ; García, Irene ; Martinez, Jose Carlos...
International Journal of Antimicrobial Agents.  54 (2019)  4 - p. 463-470 , 2019
Link: https://doi.org/10.1016/..
 
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12

MRX93 syndrome (BRWD3 gene): five new patients with novel m..:

Tenorio, Jair ; Alarcón, Pablo ; Arias, Pedro...
Clinical Genetics.  95 (2019)  6 - p. 726-731 , 2019
Link: https://doi.org/10.1111/..
 
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13

Further delineation of neuropsychiatric findings in Tatton-..:

Tenorio, Jair ; Alarcón, Pablo ; Arias, Pedro...
European Journal of Human Genetics.  28 (2019)  4 - p. 469-479 , 2019
Link: https://doi.org/10.1038/..
 
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14

Further delineation of Malan syndrome:

Priolo, Manuela ; Schanze, Denny ; Tatton-Brown, Katrin...
Human Mutation.  39 (2018)  9 - p. 1226-1237 , 2018
Link: https://doi.org/10.1002/..
 
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15

In-frame Variants inFLNAProximal Rod 1 Domain Associate Wit..:

Fernández, Luis ; Tenorio, Jair ; Polo-Vaquero, Coral...
Revista Española de Cardiología (English Edition).  71 (2018)  7 - p. 545-552 , 2018
Link: https://doi.org/10.1016/..
 
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