Immediate Impact
13 standout
Citing Papers
Whole genome sequencing in clinical practice
2024 Standout
Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)
2024 Standout
Works of Marius Kuhn being referenced
Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany
2017
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum
2015
Author Peers
| Author | Last Decade | Papers | Cites | |||||
|---|---|---|---|---|---|---|---|---|
| Marius Kuhn | 107 | 37 | 32 | 50 | 40 | 16 | 204 | |
| Maria Barbara Pasanisi | 139 | 19 | 8 | 58 | 35 | 17 | 266 | |
| Berge A. Minassian | 127 | 24 | 89 | 30 | 43 | 15 | 253 | |
| P Larrodé | 77 | 22 | 17 | 18 | 32 | 20 | 227 | |
| Hideaki Ohtsubo | 188 | 10 | 19 | 40 | 75 | 14 | 290 | |
| Jorge Alonso‐Pérez | 92 | 24 | 17 | 46 | 75 | 26 | 230 | |
| Fang He | 119 | 13 | 14 | 48 | 50 | 12 | 221 | |
| Judith López‐Fernández | 80 | 24 | 44 | 19 | 68 | 15 | 297 | |
| I Costero | 86 | 14 | 13 | 71 | 24 | 19 | 291 | |
| Gösta Holmgren | 185 | 55 | 50 | 76 | 24 | 16 | 268 | |
| Lenka Mrázová | 176 | 53 | 38 | 44 | 93 | 26 | 286 |
All Works
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