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497 results for your search :
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Delineating AMFR related hereditary spastic paraplegia: a way to therapy?
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Delineating the phenotype of the ZMYM2-related neurodevelopmental disorder
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Clinical and genetic description of GINS2 related syndrome
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Delineating the phenotypic spectrum of Kaya-Barakat-Masson syndrome caused by YIF1B
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CARS2-associated neurodevelopmental disorder with epileptic encephalopathy and a complex movement disorder.
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Prenatal and postnatal phenotype spectrum for KIF4A variants
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BRAT1-associated neurodevelopmental disorder
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Clinical and genetic delineation of autosomal recessive UFSP2-related developmental and epileptic-dyskinetic encephalopathy
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ACBD6-associated neurodevelopmental syndrome with progressive complex movement disorders
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Pathogenic heterozygous variants of GSK3B