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1

UMOD-related autosomal dominant tubulointerstitial kidney d..:

Viaño Nogueira, Pedro ; de Lucas Collantes, Carmen ; Ortiz Cabrera, Valentina..
Nefrología (English Edition). 43 (2023) 3 - p. 378-380 , 2023

Link: https://doi.org/10.1016/..

2

Nefropatía tubulointersticial autosómica dominante por muta..:

Viaño Nogueira, Pedro ; de Lucas Collantes, Carmen ; Ortiz Cabrera, Valentina..
Nefrología. 43 (2023) 3 - p. 378-380 , 2023

Link: https://doi.org/10.1016/..

3

Neuropsychiatric comorbidities and cognition in epilepsy wi..:

Ballarà Petitbò, Maria ; González Alguacil, Elena ; Gutiérrez Delicado, Eva...
Epileptic Disorders. 25 (2023) 5 - p. 758-768 , 2023

Link: https://doi.org/10.1002/..

4

Conradi‐Hünermann‐Happle syndrome with minimal signs:

Agud‐Dios, Manuel ; Ortiz Cabrera, Nelmar Valentina ; Noguera‐Morel, Lucero...
Pediatric Dermatology. 38 (2021) 6 - p. 1592-1593 , 2021

Link: https://doi.org/10.1111/..

5

ATP1A3-related disorders in the differential diagnosis of a..:

Duat-Rodríguez, Anna ; Prochazkova, Michaela ; Sebastian, Isabel Perez...
European Journal of Paediatric Neurology. 34 (2021) - p. 105-109 , 2021

Link: https://doi.org/10.1016/..

6

Orthopedic Conditions and Interplay with Functional Abiliti..:

Galán-Olleros, María ; González-Alguacil, Elena ; Soto-Insuga, Víctor...
Journal of Autism and Developmental Disorders. , 2024

Link: https://doi.org/10.1007/..

7

Diagnostic yield of clinical exome sequencing in congenital..:

Ortiz-Cabrera, Nelmar Valentina ; Gavela-Pérez, Teresa ; Mejorado-Molano, Francisco Javier...
Anales de Pediatría (English Edition). 97 (2022) 4 - p. 247-254 , 2022

Link: https://doi.org/10.1016/..

8

Análisis del rendimiento de la secuenciación del exoma clín..:

Ortiz-Cabrera, Nelmar Valentina ; Gavela-Pérez, Teresa ; Mejorado-Molano, Francisco Javier...
Anales de Pediatría. 97 (2022) 4 - p. 247-254 , 2022

Link: https://doi.org/10.1016/..

9

SUN-085 Clinical and Hormonal Features of 37 Families with ..:

Latronico, Ana Claudia ; Brito, Vinicius Nahime ; Kaiser, Ursula B...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

Link: https://doi.org/10.1210/..

10

Annular epidermolytic ichthyosis: An exceptional mild subty..:

Reolid, Alejandra ; Carrasco, Loreto ; Noguera-Morel, Lucero...
JAAD Case Reports. 6 (2020) 1 - p. 46-50 , 2020

Link: https://doi.org/10.1016/..

11

Genotype–Phenotype Correlations in Central Precocious Puber..:

Seraphim, Carlos Eduardo ; Canton, Ana Pinheiro Machado ; Montenegro, Luciana...
The Journal of Clinical Endocrinology & Metabolism. 106 (2020) 4 - p. e1041-e1050 , 2020

Link: https://doi.org/10.1210/..

12

Tocilizumab in pediatric refractory status epilepticus and ..:

Cantarín-Extremera, Verónica ; Jiménez-Legido, María ; Duat-Rodríguez, Anna...
Journal of Neuroimmunology. 340 (2020) - p. 577142 , 2020

Link: https://doi.org/10.1016/..

13

Hb Moncloa: A new variant of haemoglobin that interferes in..:

Torrejón, María Josefa ; Ortíz-Cabrera, N. Valentina ; M. Nieto, Jorge...
Clinical Biochemistry. 50 (2017) 9 - p. 521-524 , 2017

Link: https://doi.org/10.1016/..

14

Estudio de las bases moleculares de los trastornos de la pu..:

Ortiz Cabrera, Nelmar Valentina
http://hdl.handle.net/10486/689211. , 2019

Link: http://hdl.handle.net/10..

15

Nefropatía tubulointersticial autosómica dominante por muta..:

Pedro Viaño Nogueira ; Carmen de Lucas Collantes ; Valentina Ortiz Cabrera..
http://www.sciencedirect.com/science/article/pii/S0211699521001557. , 2023

Link: https://doi.org/10.1016/..

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