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Publications by Hans Hartmann
Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
Genetics
Corrigendum to “Measuring in Vivo Cerebral Maturation Using Age-Related T2 Relaxation Times at 3 T” [Brain Dev. 40 (2018) 85–93]
Brain and Development
Child Health
Developmental Neuroscience
Perinatology
Neurology
Medicine
Pediatrics
Related publications
Mutations in XRCC1 Cause Cerebellar Ataxia and Peripheral Neuropathy
Journal of Neurology, Neurosurgery and Psychiatry
Psychiatry
Mental Health
Neurology
Surgery
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Bi-Allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
American Journal of Human Genetics
Genetics
Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
American Journal of Human Genetics
Genetics
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
American Journal of Human Genetics
Genetics
Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
American Journal of Human Genetics
Genetics
SETX Mutations Are a Frequent Genetic Cause of Juvenile and Adult Onset Cerebellar Ataxia With Neuropathy and Elevated Serum Alpha-Fetoprotein
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy
American Journal of Human Genetics
Genetics
Bi-Allelic Missense ABCA3 Mutations in a Patient With Childhood ILD Who Reached Adulthood
ERJ Open Research
Pulmonary
Respiratory Medicine
