Items where authors include "Stegmann, APA"
Article
Reijnders, MRF, Seibt, A, Brugger, M et al. (25 more authors) (2023) De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood. Genetics in Medicine, 25 (7). 100838. ISSN 1098-3600
Blok, LS, Rousseau, J, Twist, J et al. (77 more authors) (2019) Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 10. 2079. ISSN 2041-1723
Snijders Blok, L, Rousseau, J, Twist, J et al. (76 more authors) (2018) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9 (1). 4619. ISSN 2041-1723
Snijders Blok, L, Rousseau, J, Twist, J et al. (76 more authors) (2018) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9 (1). 4619. ISSN 2041-1723