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Search Results to Neil Miller

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One or more keywords matched the following items that are connected to Miller, Neil

Item TypeName
Concept Mutation
Concept Frameshift Mutation
Concept Point Mutation
Concept Mutation, Missense
Concept INDEL Mutation
Academic Article Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
Academic Article De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.
Academic Article Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Academic Article A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
Academic Article PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
Academic Article Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
Academic Article On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
Academic Article CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
Academic Article Alström Syndrome: Mutation Spectrum of ALMS1.
Academic Article A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
Academic Article Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
Academic Article MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Academic Article POLR3A variants in hereditary spastic paraplegia and ataxia.
Academic Article Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis.
Academic Article Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Academic Article Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.
Academic Article Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections.
Academic Article Transcriptome sequencing of malignant pleural mesothelioma tumors.
Academic Article A highly annotated whole-genome sequence of a Korean individual.

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