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The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins.
(Cell Reports. vol. 42, n° 6, pp. 112579, 2023-06-01)Article de revueOpen access -
Severe phenotype in patients with large deletions of NF1
(Cancers. vol. 13, n° 12, 2021-06-13)Article de revueOpen access -
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
(vol. 58, n° 3, pp. 295-302, 2023-03-01)Article de revueOpen access -
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
(Journal of Clinical Endocrinology and Metabolism. vol. 108, n° 9, pp. e779-e788, 2023-03-08)Article de revueOpen access -
A hexokinase isoenzyme switch in human liver cancer cells promotes lipogenesis and enhances innate immunity
(Communications Biology. vol. 4, n° 1, 2021-02-16)Article de revueOpen access -
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
(European Journal of Human Genetics, 2023-10-23)Article de revueOpen access -
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
(Clinical Genetics. vol. 101, n° 4, pp. 390-402, 2022-04-01)Article de revueOpen access -
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
(Prenatal Diagnosis. vol. 43, n° 6, pp. 734-745, 2023-03-06)Article de revueOpen access -
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
(Molecular Psychiatry. vol. 28, n° 2, pp. 668-697, 2023-02-01)Article de revueOpen access -
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
(Nature Communications. vol. 13, n° 1, pp. 3939, 2022-07-08)Article de revueOpen access