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Publications by Kerstin Hallmann

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

American Journal of Human Genetics

English

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Biallelic Deleterious BRCA1 Mutations in a Woman With Early-Onset Ovarian Cancer

Cancer Discovery

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Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated With Childhood-Onset, Slowly Progressive Nemaline Myopathy

American Journal of Human Genetics

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Frequency of Known Mutations in Early-Onset Parkinson Disease

Archives of Neurology

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Biallelic Mutations in ADPRHL2 , Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

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Congenital Dilated Cardiomyopathy Caused by Biallelic Mutations in Filamin C

European Journal of Human Genetics

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Neurological Mutations Affecting Myelination

Journal of Neurology, Neurosurgery and Psychiatry

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Retinal Vasculitis and Choroidopathy in Pediatric-Onset Mixed Connective Tissue Disease

Journal of Clinical Rheumatology

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Human NK Cell Deficiency as a Result of Biallelic Mutations in McM10

English