Albertien M. van Eerde
- Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
2013/08/08 by Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto-van Silfhout +98 · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer Mechanisms and Therapy #Cancer-related gene regulation #Chromatin Remodeling and Cancer
- Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
2022/02/26 by Johannes Münch, Marie Engesser, Ria Schönauer +41 · 1 citation
Neuroscience · Biochemistry, Genetics and Molecular Biology · #Axon Guidance and Neuronal Signaling #Congenital heart defects research #Hippo pathway signaling and YAP/TAZ
- Chronic Kidney Disease of unexplained cause (CKDx): a consensus statement by the Genes & Kidney Working Group of the ERA
2025/05/31 by Jan Halbritter, Lucile Figueres, Albertien M. van Eerde +10 · 1 voice · 2 citations
Medicine · #Chronic Kidney Disease and Diabetes #Dialysis and Renal Disease Management #Renal Diseases and Glomerulopathies
- Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN
2024/12/02 by Roser Torrá, Beata S. Lipska‐Ziętkiewicz, Frederic Acke +76 · 1 voice · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Cell Adhesion Molecules Research #Renal Diseases and Glomerulopathies #Renal and related cancers