Suchergebnisse - "Rare disease"

PubPharm (8.249)

71

Root resorptions induced by genetic disorders : A systematic review

enthalten in: Oral diseases | 2024

von Dupre, N. | Riou, M. | Isaac, J. | +7

72

The newborn screening tests in Brazil : regional and socioeconomic prevalence and inequalities in 2013 and 2019

enthalten in: Jornal de pediatria | 2024

von Dias, L. | Tomasi, Y. | Boing, A.

73

Hao-Fountain syndrome : 32 novel patients reveal new insights into the clinical spectrum

enthalten in: Clinical genetics | 2024

von Wimmer, M. | Brennenstuhl, H. | Hirsch, S. | +4

74

Improving care for rare genetic neurodevelopmental disorders : A systematic review and critical appraisal of clinical practice guidelines using AGREE II

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Klein Haneveld, M. | Hieltjes, I. | Langendam, M. | +3

75

Making progress against rare cancers : A case study on neuroendocrine tumors

enthalten in: Cancer | 2024

von O'Rorke, M. | Chrischilles, E. | NET‐PRO Study Investigators | +31

76

Genotype-phenotype correlation in Prader-Willi syndrome : A large-sample analysis in China

enthalten in: Clinical genetics | 2024

von Mao, S. | Yang, L. | Gao, Y. | +1

77

Lessons learned from the Canadian Fabry Disease Initiative for future risk-sharing and managed access agreements for pharmaceutical and advanced therapies in Canada

enthalten in: Health policy (Amsterdam, Netherlands) | 2024

von Douglas, C. | Grunebaum, S.

78

Increase transparency and reproducibility of real-world evidence in rare diseases through disease-specific Federated Data Networks

enthalten in: Pharmacoepidemiology and drug safety | 2024

von van Baalen, V. | Didden, E. | Rosenberg, D. | +3

79

Improving access to gene therapy for rare diseases

enthalten in: Disease models & mechanisms | 2024

von Fox, T. | Booth, C.

80

Tracing the lipidome in inborn errors of metabolism

enthalten in: Biochimica et biophysica acta. Molecular and cell biology of lipids | 2024

von Zandl-Lang, M.