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1. Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

3. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

4. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

5. Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

6. FOXI3 pathogenic variants cause one form of craniofacial microsomia

7. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

8. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

9. Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

10. Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome

11. Centers for Mendelian Genomics: A decade of facilitating gene discovery

12. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

13. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

14. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

15. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

16. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

18. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

21. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

23. Back Cover, Volume 43, Issue 7

25. Centers for Mendelian Genomics: A decade of facilitating gene discovery

26. Additional file 1 of The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

27. Contributors

29. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

30. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

31. An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

32. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

33. Colaboradores

36. Contributors

37. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.

38. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

39. Contributors

42. Ankle2, a Target of Zika Virus, Controls Asymmetric Cell Division of Neuroblasts and Uncovers a Novel Microcephaly Pathway

43. Contributors

49. Contributors

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