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Publications by Bjorn Olsson
Truncating CHRNG Mutations Associated With Interfamilial Variability of the Severity of the Escobar Variant of Multiple Pterygium Syndrome
BMC Genetics
Genetics
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Escobar Syndrome (Multiple Pterygium Syndrome) Associated With Osteogenesis Imperfecta: A Case Report
ORTHOPAEDICS, TRAUMATOLOGY and PROSTHETICS
A Novel Truncating Variant of GLI2 Associated With Culler-Jones Syndrome Impairs Hedgehog Signalling
PLoS ONE
Multidisciplinary
Lethal Multiple Pterygium Syndrome, the Extreme End of the RYR1 Spectrum
BMC Musculoskeletal Disorders
Rheumatology
Orthopedics
Sports Medicine
Truncating Mutations inSPASTpatients Are Associated With a High Rate of Psychiatric Comorbidities in Hereditary Spastic Paraplegia
Journal of Neurology, Neurosurgery and Psychiatry
Psychiatry
Mental Health
Neurology
Surgery
Prinzmetal Variant Angina Associated With Multiple Sclerosis
Journal of the American Board of Family Medicine
Environmental
Public Health
Family Practice
Occupational Health
Predictors and Prevalence of Paraganglioma Syndrome Associated With Mutations of the SDHC Gene
JAMA - Journal of the American Medical Association
Medicine
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
Genetics
De Novo Truncating Variant in NSD2gene Leading to Atypical Wolf-Hirschhorn Syndrome Phenotype
BMC Medical Genetics
Genetics
Excess of Rare, Inherited Truncating Mutations in Autism
Nature Genetics
Genetics