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Nelmar Valentina Ortiz-Cabrera
13  results:
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1

Diagnostic yield of clinical exome sequencing in congenital..:

Nelmar Valentina Ortiz-Cabrera ; Teresa Gavela-Pérez ; Francisco Javier Mejorado-Molano...
http://www.sciencedirect.com/science/article/pii/S2341287921001113.  , 2022
Link: https://doi.org/10.1016/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

Diagnostic yield of clinical exome sequencing in congenital..:

Ortiz-Cabrera, Nelmar Valentina ; Mejorado-Molano, Francisco Javier ; Santillán-Coello, Jessica Mire...
Anales de Pediatria.  , 2022
Link: http://hdl.handle.net/10..
 
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12

Annular epidermolytic ichthyosis: An exceptional mild subty..:

Reolid, Alejandra ; Carrasco, Loreto ; Noguera-Morel, Lucero...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938839/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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13

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..
 
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