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Publications by Bruno Della Ripa de Assis
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
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
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Autism and Intellectual Disability Associated With Mitochondrial Disease and Hyperlactacidemia
International Journal of Molecular Sciences
Organic Chemistry
Molecular Biology
Theoretical Chemistry
Inorganic Chemistry
Computer Science Applications
Spectroscopy
Medicine
Catalysis
Physical
Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
American Journal of Human Genetics
Genetics
Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay
Genetics in Medicine
Medicine
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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
American Journal of Human Genetics
Genetics
Mutations in RAB39B in Individuals With Intellectual Disability, Autism Spectrum Disorder, and Macrocephaly
Molecular Autism
Psychiatry
Mental Health
Developmental Neuroscience
Developmental Biology
Molecular Biology
Severe Intellectual Disability Associated With Recessive Defects in CNTNAP2 and NRXN1
Molecular Syndromology
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De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
De Novo Mutations in FOXP1 in Cases With Intellectual Disability, Autism, and Language Impairment
American Journal of Human Genetics
Genetics
