Implication of missense variants in the NSD1 gene in Sotos-like phenotype : ITHACA Call for collaborative clinical research (23)

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CAMK2A-related neurodevelopmental disorder – description of the clinical and neurological phenotype : ITHACA Call for collaborative clinical research (22)

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Osteopathia striata with cranial sclerosis – A further insight : ITHACA Call for collaborative clinical research (21)

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Expanding the phenotype related to de novo missense variants in HNRNPH2 : ITHACA Call for collaborative clinical research (20)

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A novel X-linked syndromic neurodevelopmental disorders associated with WDR44 pathogenic variants : ITHACA Call for collaborative clinical research (19)

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RAB10 : a candidate gene for a severe neurodevelopmental syndrome – ITHACA Call for collaborative clinical research (18)

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B4GALT5 as potential candidate gene for a novel sphingolipid disorder – ITHACA Call for collaborative clinical research (17)

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