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496 results for your search :
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Electroclinical and Genetic characterization of SETD5-related epilepsy
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CIZ1 neurodevelopmental disoders
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TBX1 associated phenotypes
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Clinical and genetic characterization of the MET-related Arthrogryposis – Call for collaboration
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Clinical and functional studies of SNUPN-related disorders
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Clinical, molecular and functional characterization of MSMO1 deficiency
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Characterisation of patients with de novo variants in RBBP4 gene: description of a new NuRDopathy
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Somatic mutations and tissue methylation pattern on patients with neural tube defects
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New variants of ACVRL1 in Galen aneuvrysmal malformations
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Epilepsy and other neurological signs (hemiplegic migraine) in patients with ZTTK syndrome