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1. Epigenomic and phenotypic characterization of DEGCAGS syndrome

2. Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy

3. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

4. Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death

6. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

7. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

8. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

9. Prognostic Value of Genotype–Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool

10. Prognostic Value of Genotype-Phenotype Correlations in X-linked Myotubular Myopathy and Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool

11. Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia and premature death

12. GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases

13. Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

14. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

15. CUX1-related neurodevelopmental disorder:deep insights into phenotype-genotype spectrum and underlying pathology

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

17. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

18. CUX1-related neurodevelopmental disorder: Deep insights into phenotype-genotype spectrum and underlying pathology

20. Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

22. Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy

23. Biallelic PRMT7pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

24. Microduplications of ARID1Aand ARID1Bcause a novel clinical and epigenetic distinct BAFopathy

25. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

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