16 results on '"Sigaudy Sabine"'
Search Results
2. GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
3. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
4. Real-world evidence in achondroplasia: considerations for a standardized data set
5. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
6. Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
7. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
8. Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
9. Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al.
10. Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders
11. Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes
12. ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
13. Schimke immunoosseous dysplasia: defining skeletal features
14. Acrocallosal syndrome in fetus: focus on additional brain abnormalities
15. MR imaging of acquired fetal brain disorders
16. Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.