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Publications by Atefeh Khoshaeen

Truncating CHRNG Mutations Associated With Interfamilial Variability of the Severity of the Escobar Variant of Multiple Pterygium Syndrome

English

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Escobar Syndrome (Multiple Pterygium Syndrome) Associated With Osteogenesis Imperfecta: A Case Report

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A Novel Truncating Variant of GLI2 Associated With Culler-Jones Syndrome Impairs Hedgehog Signalling

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Lethal Multiple Pterygium Syndrome, the Extreme End of the RYR1 Spectrum

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Truncating Mutations inSPASTpatients Are Associated With a High Rate of Psychiatric Comorbidities in Hereditary Spastic Paraplegia

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Prinzmetal Variant Angina Associated With Multiple Sclerosis

Journal of the American Board of Family Medicine

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Predictors and Prevalence of Paraganglioma Syndrome Associated With Mutations of the SDHC Gene

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Maternal ABCA1 Genotype Is Associated With Severity of Smith–Lemli–Opitz Syndrome and With Viability of Patients Homozygous for Null Mutations

European Journal of Human Genetics

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De Novo Truncating Variant in NSD2gene Leading to Atypical Wolf-Hirschhorn Syndrome Phenotype

BMC Medical Genetics

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Excess of Rare, Inherited Truncating Mutations in Autism

Nature Genetics

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