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497 results for your search :
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Epilepsy and other neurological signs (hemiplegic migraine) in patients with ZTTK syndrome
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SNX14-related spinocerebellar ataxia
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HCFC1 associated phenotypes and X-inactivation pattern
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Biallelic missense variants in CSMD2 are associated with a neurodevelopmental disease and epilepsy
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Clinical characterization the spectrum associated with bi-allelic variants in ACACA gene and biochemical evaluation
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Clinical and Genetic characterization of the DMXL2-related DEE
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Expanding the phenotypic spectrum of RNU4ATAC-related disorders
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RAB3GAP1- and RAB3GAP2-related Warburg-Micro syndrome
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Characterization of COXFA4 (previously named NDUFA4) – related disorders
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Clinical, molecular and functional characterization of biallelic ELOVL1-associated neurodevelopmental disorder