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American Journal of Human Genetics|September 20, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variationWarren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, et al.Biorxiv : the Preprint Server for Biology|February 17, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variationWarren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, et al.Science (New York, N.Y.)|November 14, 2024
A glutamine metabolic switch supports erythropoiesisJunhua Lyu, Zhimin Gu, Yuannyu Zhang, et al.Journal of Physiology and Biochemistry|September 26, 2025
Oral lipoteichoic and lipoic acids improve insulin resistance and body composition in porphyria mice on a high-carbohydrate dietMiriam Longo, Teresa Rubio, Araceli Lamelas, et al.Neurology|July 19, 2022
Muscle MRI in McArdle Disease: A European Multicenter Observational StudyNicoline Løkken, Karoline Lolk Revsbech, Laura Nørager Jacobsen, et al.Acta Neurochirurgica|July 1, 2025
Motor network pre-habilitation by low-frequency repetitive transcranial magnetic stimulation. A proof-of-conceptNoa Ben Dor, Giovanni Raffa, Antonino Scibilia, et al.Genes|December 23, 2023
NUP85 as a Neurodevelopmental Gene: From Podocyte to NeuronAntonella Gambadauro, Giuseppe Donato Mangano, Karol Galletta, et al.American Journal of Hematology|October 10, 2022
The role of hypoxia and inflammation in the regulation of iron metabolism and erythropoiesis in COVID-19: The IRONCOVID studyDiletta Maira, Lorena Duca, Fabiana Busti, et al.Neuropediatrics|June 20, 2013
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotypeMartino Ruggieri, Agata Polizzi, Vincenzo Salpietro, et al.Brain Sciences|September 28, 2021
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan SyndromeCeleste Casto, Valeria Dipasquale, Ida Ceravolo, et al.Pageof 17