Nelmar Valentina Ortiz‐Cabrera

Genotype–Phenotype Correlations in Central Precocious Puberty Caused by <i>MKRN3</i> Mutations

Carlos Eduardo Seraphim, Ana Pinheiro Machado Canton, Luciana Ribeiro Montenegro et al. · The Journal of Clinical Endocrinology & Metabolism · 2020 · 50 citations · Full text

Tocilizumab in pediatric refractory status epilepticus and acute epilepsy: Experience in two patients

Verónica Cantarín Extremera, María Jiménez‐Legido, Anna Duat Rodríguez et al. · Journal of Neuroimmunology · 2020 · 39 citations

Acute Epilepsy, Pediatric Neurosurgery, Pediatrics +2

Clinical Exome Sequencing Reveals &lt;b&gt;&lt;i&gt;MKRN3&lt;/i&gt;&lt;/b&gt; Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty

Nelmar Valentina Ortiz‐Cabrera, Rosa Riveiro-Álvarez, Miguel Ángel López-Martínez et al. · Hormone Research in Paediatrics · 2016 · 30 citations

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Daniel Greene, Koenraad De Wispelaere, Marta Codina‐Solà et al. · Nature Genetics · 2025 · 24 citations · Full text

&lt;b&gt;&lt;i&gt;LZTR1&lt;/i&gt;&lt;/b&gt;: Genotype Expansion in Noonan Syndrome

María Güemes, Álvaro Martín‐Rivada, Nelmar Valentina Ortiz‐Cabrera et al. · Hormone Research in Paediatrics · 2019 · 22 citations