Melanie Philipp

10PUBLICATIONS
82CO-AUTHORS
Gene mappingHaematologyCancer geneticsCancer diagnosisNeonatology
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Publications (10)

|Feb 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Benita Menden, Rana D Incebacak Eltemur, German Demidov

|Sep 09, 2024
Cilia defects upon loss of WDR4 are linked to proteasomal hyperactivity and ubiquitin shortage.

Martin D Burkhalter, Tom Stiff, Lars D Maerz

|Aug 03, 2023
Aging Associates with Cilium Elongation and Dysfunction in Kidney and Pancreas.

Fabian Adametz, Annika Müller, Stephan Stilgenbauer

|Feb 08, 2022
Pathway-specific effects of ADSL deficiency on neurodevelopment.

Ilaria Dutto, Julian Gerhards, Antonio Herrera

|Jul 19, 2019
SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication.

Swagata Halder, Ignacio Torrecilla, Martin D Burkhalter

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