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Camats-Tarruella, Núria
69  results:
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1

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants:..:

Baz-Redón, Noelia ; Antolín, María ; Clemente, María...
International Journal of Molecular Sciences.  25 (2024)  15 - p. 8473 , 2024
Link: https://doi.org/10.3390/..
 
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2

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel ..:

Baz-Redón, Noelia ; Sánchez-Bellver, Laura ; Fernández-Cancio, Mónica...
Cells.  13 (2024)  6 - p. 524 , 2024
Link: https://doi.org/10.3390/..
 
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3

Clinical and molecular study of patients with thyroid dysho..:

Fernández-Cancio, Mónica ; Antolín, María ; Clemente, María...
Frontiers in Endocrinology.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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4

Clinical and genetic characteristics of a large internation..:

Kouri, Chrysanthi ; Sommer, Grit ; Martinez de Lapiscina, Idoia...
eBioMedicine.  99 (2024)  - p. 104941 , 2024
Link: https://doi.org/10.1016/..
 
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5

Genetics and Natural History of Non-pancreatectomized Patie..:

Clemente, María ; Cobo, Patricia ; Antolín, María...
The Journal of Clinical Endocrinology & Metabolism.  108 (2023)  11 - p. e1316-e1328 , 2023
Link: https://doi.org/10.1210/..
 
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6

Novel variant in HHAT as a cause of different sex developme..:

Baz-Redón, Noelia ; Soler-Colomer, Laura ; Fernández-Cancio, Mónica...
Frontiers in Endocrinology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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7

A New MAMLD1 Variant in an Infant With Microphallus and Hyp..:

Yeste, Diego ; Aguilar-Riera, Cristina ; Canestrino, Gennaro...
Frontiers in Endocrinology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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8

Incidence and Prevalence of Children's Diffuse Lung Disease..:

Torrent-Vernetta, Alba ; Gaboli, Mirella ; Castillo-Corullón, Silvia...
Archivos de Bronconeumología.  58 (2022)  1 - p. 22-29 , 2022
Link: https://doi.org/10.1016/..
 
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9

Implementation of a gene panel for genetic diagnosis of pri..:

Baz-Redón, Noelia ; Rovira-Amigo, Sandra ; Paramonov, Ida...
Archivos de Bronconeumología (English Edition).  57 (2021)  3 - p. 186-194 , 2021
Link: https://doi.org/10.1016/..
 
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10

Implementación de un panel de genes para el diagnóstico gen..:

Baz-Redón, Noelia ; Rovira-Amigo, Sandra ; Paramonov, Ida...
Archivos de Bronconeumología.  57 (2021)  3 - p. 186-194 , 2021
Link: https://doi.org/10.1016/..
 
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11

Immunofluorescence Analysis as a Diagnostic Tool in a Spani..:

Baz-Redón, Noelia ; Rovira-Amigo, Sandra ; Fernández-Cancio, Mónica...
Journal of Clinical Medicine.  9 (2020)  11 - p. 3603 , 2020
Link: https://doi.org/10.3390/..
 
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12

Papel de la inmunofluorescencia y el diagnóstico molecular ..:

Baz-Redón, Noelia ; Rovira-Amigo, Sandra ; Camats-Tarruella, Núria...
Archivos de Bronconeumología.  55 (2019)  8 - p. 439-441 , 2019
Link: https://doi.org/10.1016/..
 
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13

Role of Immunofluorescence and Molecular Diagnosis in the C..:

Baz-Redón, Noelia ; Rovira-Amigo, Sandra ; Camats-Tarruella, Núria...
Archivos de Bronconeumología (English Edition).  55 (2019)  8 - p. 439-441 , 2019
Link: https://doi.org/10.1016/..
 
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14

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel ..:

Baz-Redón, Noelia ; Sánchez-Bellver, Laura ; Fernández-Cancio, Mónica...
https://discovery.ucl.ac.uk/id/eprint/10189536/1/cells-13-00524.pdf.  , 2024
Link: https://discovery.ucl.ac..
 
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15

Implementation of a Gene Panel for Genetic Diagnosis of Pri..:

Baz-Redón, Noelia ; Rovira-Amigo, Sandra ; Paramonov, Ida...
Archivos de Bronconeumologia, 2021, vol. 57, num. 3, p. 186-194.  , 2023
Link: https://hdl.handle.net/1..
 
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