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27 results on '"Rieubland, Claudine"'

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1. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

2. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

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

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

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

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

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

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

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

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

13. Unexplained cardiac arrest: a tale of conflicting interpretations of KCNQ1 genetic test results

14. Phenotypes and genotypes in individuals with SMC1A variants

15. 96-77: Phenotypic Spectrum of HCN4 Mutations: Further Evidence of involvement in Left Ventricular Non-Compaction, Sick Sinus Syndrome, and Mood- and Anxiety Disorder

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

18. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

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

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

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