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Publications by Emilia K. Bijlsma
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
American Journal of Human Genetics
Genetics
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease
American Journal of Human Genetics
Genetics
Complex Genetics of Radial Ray Deficiencies: Screening of a Cohort of 54 Patients
Genetics in Medicine
Medicine
Genetics
Efficacy of Baricitinib in the Treatment of Chilblains Associated With the Type I Interferonopathy Aicardi-Goutières Syndrome
Arthritis and Rheumatology
Rheumatology
Allergy
Immunology
Delineating the GRIN1 Phenotypic Spectrum
Neurology
Neurology
Equivalent Missense Variant in the FOXP2 and FOXP1 Transcription Factors Causes Distinct Neurodevelopmental Disorders
Human Mutation
Genetics
Reply to Oliver W. Quarrell Et Al.: Letter in Response to Tibben Et Al., Risk Assessment for Huntington’s Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners
Journal of Huntington's disease
Molecular Neuroscience
Neurology
Cellular
