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International Journal of Molecular Sciences|February 15, 2022
Transferrin Saturation/Hepcidin Ratio Discriminates <i>TMPRSS6</i>-Related Iron Refractory Iron Deficiency Anemia from Patients with Multi-Causal Iron Deficiency AnemiaHilde van der Staaij, Albertine E Donker, Dirk L Bakkeren, et al.
The Journal of Clinical Endocrinology and Metabolism|November 2, 2022
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder DiseaseMarie-Noëlle Méaux, Jérôme Harambat, Anya Rothenbuhler, et al.
American Journal of Medical Genetics. Part A|July 3, 2003
Perinatal-lethal Gaucher diseaseC Mignot, A Gelot, B Bessières, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|April 13, 2021
Clinical and Prognostic Value of Immunogenetic Characteristics in Anti-LGI1 EncephalitisSergio Muñiz-Castrillo, Julie Haesebaert, Laure Thomas, et al.
Studies in Health Technology and Informatics|September 16, 2010
CEMARA an information system for rare diseasesPaul Landais, Claude Messiaen, Ana Rath, et al.
Sleep Medicine|April 9, 2014
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1Keivan Kaveh Moghadam, Fabio Pizza, Caterina Tonon, et al.
NPJ Digital Medicine|July 7, 2026
PANDA pediatric arousal neural detection architectureArnav Gupta, Ayush Tripathi, Wolfgang Ganglberger, et al.
Supportive Care in Cancer : Official Journal of the Multinational Association of Supportive Care in Cancer|December 27, 2022
Impact of early palliative care on additional line of chemotherapy in metastatic breast cancer patients: results from the randomized study OSSGisèle Chvetzoff, Carole Bouleuc, Audrey Lardy-Cléaud, et al.
Studies in Health Technology and Informatics|May 20, 2008
CEMARA: a Web dynamic application within a N-tier architecture for rare diseasesClaude Messiaen, Loïc Le Mignot, Ana Rath, et al.
Toxics|January 20, 2023
Ultrafine Particles Issued from Gasoline-Fuels and Biofuel Surrogates Combustion: A Comparative Study of the Physicochemical and <i>In Vitro</i> Toxicological EffectsAna Teresa Juárez-Facio, Tiphaine Rogez-Florent, Clémence Méausoone, et al.
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