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Publications by Adeline Vanderver
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
American Journal of Human Genetics
Genetics
Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy
American Journal of Human Genetics
Genetics
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
American Journal of Human Genetics
Genetics
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy P415
American Journal of Human Genetics
Genetics
Correction to Helman Et Al (2016) MRI Spectrum of SDH Deficiency-Related Infantile Leukoencephalopathy.
Annals of Neurology
Neurology
A Clinical Approach to the Diagnosis of Patients With Leukodystrophies and Genetic Leukoencephelopathies
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
McT8 Deficiency
Journal of Child Neurology
Child Health
Neurology
Pediatrics
Perinatology
