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Your search keyword '"Sigaudy Sabine"' showing total 16 results

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16 results on '"Sigaudy Sabine"'

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1. Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene

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

10. Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

12. ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

13. Schimke immunoosseous dysplasia: defining skeletal features

16. Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

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