Recherche
-
Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome
(American Journal of Medical Genetics Part A. vol. 188, n° 9, pp. 2627-2636, 2022-09)Article de revueLibre accès -
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
(Clinical Genetics. vol. 100, n° 4, pp. 468-477, 2021-07-01)Article de revue -
Dopachrome tautomerase variants in patients with oculocutaneous albinism
(Genetics in Medicine. vol. 23, n° 3, pp. 479-487, 2021)Article de revue -
Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al.
(Genetics in Medicine. vol. 23, n° 10, pp. 2003-2004, 2021-06-02)Article de revue -
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies
(Platelets. vol. 32, n° 3, pp. 420-423, 2021)Article de revue -
Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders
(Scientific Reports. vol. 8, pp. 17 p., 2018)Article de revue -
Pain evaluation after day-surgery using a mobile phone application
(Anaesthesia Critical Care & Pain Medicine. vol. 40, n° 3, 2021-06)Article de revue -
Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.
(Brain and Development. vol. 44, n° 8, pp. 567-570, 2022-09-01)Article de revue -
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome
(Pigment Cell & Melanoma research. vol. 34, n° 1, pp. 132-135, 2021-01)Article de revue