Recherche
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Evidence of mosaicism in SPAST variant carriers in four French families
(European Journal of Human Genetics. vol. 29, n° 7, pp. 1158-1163, 2021-05-06)Article de revue -
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
(Clinical Genetics. vol. 99, n° 5, pp. 650-661, 2021-01-07)Article de revue -
Composition and properties of silver-containing calcium carbonate–calcium phosphate bone cement
(Journal of Materials Science: Materials in Medicine. vol. Vol. 24, n° n° 12, pp. pp. 2665-2675, 2013-12)Article de revue -
Re-focusing on Agnathia-Otocephaly complex
(Clinical Oral Investigations. vol. 25, n° 3, pp. 1353-1362, 2021)Article de revue -
Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited
(Journal of Neurology, Neurosurgery and Psychiatry. vol. 92, n° 1, 2021)Article de revue -
Albinism: An Underdiagnosed Condition.
(Journal of Investigative Dermatology. vol. 140, n° 7, pp. 1449-1451, 2020-07-01)Article de revue -
Left ventricular unloading did not decrease mortality in cardiogenic shocks patients supported with VA-ECMO: A propensity score matching study.
(Anaesthesia Critical Care & Pain Medicine. vol. 41, n° 2, pp. 101042, 2022-02-17)Article de revue -
Endothelial Dysfunction in Heart Failure With Preserved Ejection Fraction: What are the Experimental Proofs?
(Frontiers in Physiology. vol. 13, pp. 906272, 2022-01-01)Article de revue -
Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation
(Journal of Bone and Mineral Research. vol. 31, n° 3, pp. 498–513, 2015-10)Article de revue -
Clinical variability and probable founder effect in oculocutaneous albinism type 7.
(Clinical Genetics. vol. 97, n° 3, pp. 527-528, 2020-03-01)Article de revue