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34 results on '"Rieubland, Claudine"'

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1. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

2. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

4. Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

5. Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.

6. Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

7. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

8. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

9. Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy

10. Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

11. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

13. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

15. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

18. Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice

19. SCN5A mutations in 442 neonates and children: Genotype-phenotype correlation and identification of higher-risk subgroups

20. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6Avariants causing X-linked Kabuki syndrome type 2

21. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

22. SCN5A mutations in 442 neonates and children: genotype–phenotype correlation and identification of higher-risk subgroups

25. 96-77: Phenotypic Spectrum of HCN4 Mutations: Further Evidence of involvement in Left Ventricular Non-Compaction, Sick Sinus Syndrome, and Mood- and Anxiety Disorder

26. Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia

28. Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3

31. Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice.

32. Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach.

33. Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia.

34. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

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