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Iciar Sánchez-Albisua

University of Duisburg-Essen

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P 308. Autosomal Recessive Mutations in the NALCN Gene: A Rare Cause of a Severe Developmental Disorder with Facial Dysmorphia, Epilepsy and Cheyne–Stokes/Biot’s Respiration with Central Apneas

2018
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P 307. Walker–Warburg’s Syndrome Due to Homozygous POMK Mutation in Preterm Twins: Case Report

2018 Neuropediatrics
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P.494 - A rare cause of congenital ptosis with external ophthalmoplegia: case report and differential diagnosis

2017 Neuromuscular Disorders
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A Rare Cause of Congenital Ptosis with External Ophthalmoplegia: Case Report and Differential Diagnosis

2017 Neuropediatrics
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