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1. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Issue 2 (26th June 2006)

2. Central 22q11.2 deletions. Issue 11 (14th August 2014)

3. Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy. (May 2021)

5. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Issue 19 (2nd March 2022)

6. Etiological diagnosis in limb reduction defects and the number of affected limbs: A population‐based study in the Northern Netherlands. Issue 12 (21st September 2020)

9. MO034: Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family. (3rd May 2022)