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29 results on '"Goizet, Cyril"'

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2. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

3. Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).

4. Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

5. High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

7. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

8. Coexistence of schwannomatosis and glioblastoma in two families.

9. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

10. Disrupted filamin A/α IIb β 3 interaction induces macrothrombocytopenia by increasing RhoA activity.

11. Genetics of amyotrophic lateral sclerosis: A review.

12. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

14. A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

15. Non-specific gastrointestinal features: Could it be Fabry disease?

16. An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

17. History and current difficulties in classifying inherited myopathies and muscular dystrophies.

18. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

19. Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?

20. Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

21. Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

22. 1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

23. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

24. Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I.

25. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.

26. Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease.

27. Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.

28. Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.

29. A patient with hydranencephaly and PEHO-like dysmorphic features.

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