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Publications by Isabella Barcelos
PUS3 Mutations Are Associated With Intellectual Disability, Leukoencephalopathy, and Nephropathy
Neurology: Genetics
Neurology
Genetics
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De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features
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Autism and Intellectual Disability Associated With Mitochondrial Disease and Hyperlactacidemia
International Journal of Molecular Sciences
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Computer Science Applications
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Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
American Journal of Human Genetics
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Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay
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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
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Mutations in RAB39B in Individuals With Intellectual Disability, Autism Spectrum Disorder, and Macrocephaly
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Severe Intellectual Disability Associated With Recessive Defects in CNTNAP2 and NRXN1
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De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
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De Novo Mutations in FOXP1 in Cases With Intellectual Disability, Autism, and Language Impairment
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