Ingrid M. Wentzensen
- Response to androgen therapy in patients with dyskeratosis congenita
2014/02/12 by Payal P. Khincha, Ingrid M. Wentzensen, Neelam Giri +2 · 28 citations
Medicine · #Telomeres, Telomerase, and Senescence #Cytomegalovirus and herpesvirus research #Erythrocyte Function and Pathophysiology
- Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
2022/04/01 by Sarah Stephenson, Sarah E.M. Stephenson, Gregory Costain +127 · 20 citations
Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genetics and Neurodevelopmental Disorders #Ubiquitin and proteasome pathways
- The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
2023/02/06 by Afshin Saffari, Tracy Lau, Homa Tajsharghi +129 · 8 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Neurogenetic and Muscular Disorders Research #Neurological disorders and treatments #RNA regulation and disease