17 results on '"GOROKHOVA, Svetlana"'
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2. Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin
3. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
4. P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*
5. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
6. Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder
7. Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al.
8. Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
9. Full lattice convergence on Riesz spaces
10. Significant contribution of intragenic deletions to ARID1B mutation spectrum
11. Evaluation of the Cardiovascular Risk in Middle-aged Workers: An Artificial Neural Networks-based Approach
12. Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders
13. Apport du séquençage à haut débit d’un panel de gènes dans le diagnostic des myopathies distales
14. Analyse évolutive d’une cohorte de patients atteints de myopathie héréditaire à inclusions : de l’approche « gène par gène » à l’approche « exome »
15. Coronary heart disease diagnosis by artificial neural networks including genetic polymorphisms and clinical parameters
16. INDIVIDUAL CORONARY RISK EVALUATION IN MALE RAILWAY WORKERS
17. Conceptual and Grammatical Fields: Speech Errors Revisited
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