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American Journal of Human Genetics|December 9, 2008
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patientsHanna T Gazda, Mee Rie Sheen, Adrianna Vlachos, et al.
Human Molecular Genetics|January 28, 2020
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndromeManame Benyelles, Marie-Françoise O'Donohue, Laëtitia Kermasson, et al.
American Journal of Human Genetics|March 5, 2017
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human DysmorphismNahuel A Paolini, Martin Attwood, Samuel B Sondalle, et al.
Blood|September 19, 2025
VEXAS anemia is a mosaic erythroblastopeniaFrancois Rodrigues, Giulia Hardouin, Sara El Hoss, et al.
JCI Insight|August 1, 2024
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variantsFlorence Fellmann, Carol Saunders, Marie-Françoise O'Donohue, et al.
Blood|August 21, 2020
p53 activation during ribosome biogenesis regulates normal erythroid differentiationSalomé Le Goff, Ismael Boussaid, Celia Floquet, et al.
Blood|February 25, 2022
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemiaMarie-Françoise O'Donohue, Lydie Da Costa, Marco Lezzerini, et al.
American Journal of Human Genetics|October 22, 2019
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short StatureCedric Le Caignec, Benjamin Ory, François Lamoureux, et al.
Nucleic Acids Research|December 5, 2019
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolismMarco Lezzerini, Marianna Penzo, Marie-Françoise O'Donohue, et al.
The Lancet. Haematology|May 2, 2024
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statementMarcin W Wlodarski, Adrianna Vlachos, Jason E Farrar, et al.
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