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Webinar 7: Speaking or not speaking, epilepsy or not epilepsy: is Rett syndrome a real monogenic disorder
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Further delineation of SCAF4-associated NDDs
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Fetal form of Tonne-Kalscheuer syndrome (TOKAS) associated with variants in RLIM
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Refinement of the clinical and radiological phenotype of patients carrying bi allelic pathogenic MED23 variants
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Manchester Dysmorphology Conference 2023
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LRRC8A de novo variant
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Phelan-McDermid Guideline
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SETD5 prenatal phenotype: a review
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Further expansion of the MAP4K4-related phenotype