Lynne Rumping

Years Active: 2021-2023
Publications (10 Years): 4

This page only lists publications with an associated author ORCID identifier.

Publications

Lynne Rumping, Petra J W Pouwels, Nicole I Wolf, Holger Rehmann, Mirjam M C Wamelink, Quinten Waisfisz, Judith J M Jans, Hubertus C M T Prinsen, Jiddeke M van de Kamp, Peter M van Hasselt
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy. JIMD reports 64 (3) (2023)
Lynne Rumping, Petra J W Pouwels, Nicole I Wolf, Holger Rehmann, Mirjam M C Wamelink, Quinten Waisfisz, Judith J M Jans, Hubertus C M T Prinsen, Jiddeke M van de Kamp, Peter M van Hasselt
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy. JIMD reports 64 (3) (2023)
Lynne Rumping, Raoul C M Hennekam, Mariëlle Alders, Mieke M van Haelst
"Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome. European journal of human genetics : EJHG (2022)
Lynne Rumping, Marja W Wessels, Alex V Postma, Joost van Schuppen, Marjon A van Slegtenhorst, Jasper J Saris, J Peter van Tintelen, Stephen P Robertson, Mariëlle Alders, Saskia M Maas, Ronald H Lekanne Deprez
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant. American journal of medical genetics. Part A 185 (12) (2021)

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