Search Results (70)
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| Match | Type | Why |
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| A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder. | Academic Article |
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| CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders. | Academic Article |
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| Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. | Academic Article |
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| Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. | Academic Article |
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| Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. | Academic Article |
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| LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. | Academic Article |
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| Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. | Academic Article |
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| Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. | Academic Article |
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| Syndromic neurodevelopmental disorder associated with de novo variants in DDX23. | Academic Article |
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| A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. | Academic Article |
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| Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity. | Academic Article |
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| Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. | Academic Article |
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| HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. | Academic Article |
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| Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. | Academic Article |
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| Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. | Academic Article |
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