Concepedia

Raoul Heller

RH

Statistics

Publications

40

Citations

2.7K

H-Index

28

Active since

1996

Affiliations

University of Cologne(Current)

University Hospital Cologne

University of Bonn

Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases

University of Lübeck

Raoul Heller is an author at University of Cologne specializing in genetics, life sciences, and molecular genetics.

Publications per year

1996–2022

40

Publications

40

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

Lars Brichta, Berthold Schrank, Hanns Lochmüller et al. · Human Genetics · 2006 · 351 citations

, , +11

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

Sabine Rudnik‐Schöneborn, Raoul Heller, C Berg et al. · Journal of Medical Genetics · 2008 · 196 citations

, , +17

Mini-chromosomes derived from the human Y chromosome by telomere directed chromosome breakage.

Raoul Heller, K. E. Brown, Carola Burgtorf et al. · Proceedings of the National Academy of Sciences · 1996 · 146 citations

, , +15

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

Anne Michalk, Sigmar Stricker, Jutta Becker et al. · The American Journal of Human Genetics · 2008 · 142 citations · Full text

, , +10

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

Ilana Chefetz, Raoul Heller, Assimina Galli‐Τsinopoulou et al. · Human Genetics · 2005 · 138 citations

, , +14

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