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Management of albinism: French guidelines for diagnosis and care
(Journal of the European Academy of Dermatology and Venereology. vol. 35, n° 7, pp. 1449-1459, 2021-05-27)Article de revue -
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
(European Journal of Medical Genetics. vol. 64, n° 4, 2021-04)Article de revue -
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
(Human Genetics. vol. 140, n° 6, pp. 933-944, 2021)Article de revue -
How I manage pregnancy in women with Glanzmann thrombasthenia.
(Blood, 2022-03-14)Article de revue -
Superior Vena Cava Thrombosis.
(The American Journal of Medicine, 2022-04-23)Article de revue -
Un nouveau type de substitut vasculaire obtenu par tissage de fils issus de la membrane amniotique humaine
(Université de Bordeaux)Thèses de doctorat -
HemosIL VWF:GPIbR Assay Has a Greater Sensitivity than VWF:RCo Technique to Detect Acquired von Willebrand Syndrome in Myeloproliferative Neoplasms.
(Thrombosis and Haemostasis, 2022-06-28)Article de revue -
Atypical late diagnosis of Noonan syndrome revealed by bleedings due to platelet dysfunction.
(Journal of Thrombosis and Thrombolysis, 2021-08-08)Article de revue -
High glycemic variability: An underestimated determinant of stroke functional outcome following large vessel occlusion
(Revue Neurologique, 2022-02-01)Article de revue -
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)
(European Journal of Human Genetics. vol. 29, n° 9, pp. 1470-1471, 2021-07-15)Article de revue