Search

Your search keyword '"Kuper, Willemijn F.E."' showing total 11 results

Search Constraints

Start Over You searched for: Author "Kuper, Willemijn F.E." Remove constraint Author: "Kuper, Willemijn F.E."
11 results on '"Kuper, Willemijn F.E."'

Search Results

2. Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

3. Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis

4. Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis

5. Motor function impairment is an early sign of CLN3 disease

6. Timing of cognitive decline in CLN3 disease

7. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

8. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

9. Timing of cognitive decline in CLN3 disease

11. A case of unexpected adult-onset neurologic decline in CLN3-associated retinal degeneration

Catalog

Books, media, physical & digital resources