H.‐J. Christen

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 442 citations · Full text

Cardiomyopathy, Heart Failure, Cardiorenal Syndromes +8

The different patterns of the photoparoxysmal response — a genetic study

Stephan Waltz, H.‐J. Christen, H. Doose · Electroencephalography and Clinical Neurophysiology · 1992 · 239 citations

Photoparoxysmal Response, Photochemistry, Ophthalmology +8

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

H.‐J. Lüdecke, Jörg Schaper, Peter Meinecke et al. · The American Journal of Human Genetics · 2001 · 234 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +4

Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy

Kati Donner, Miina Ollikainen, Maaret Ridanpää et al. · Neuromuscular Disorders · 2002 · 225 citations

Rare Cause, Medicine, Molecular Biology +5

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

Manju A. Kurian, Yan Li, Juan Zhen et al. · The Lancet Neurology · 2010 · 207 citations · Full text