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1. Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.

2. Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

3. The GENESIS database and tools: A decade of discovery in Mendelian genomics

4. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

5. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

6. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

7. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

8. De novo variants in DENND5B cause a neurodevelopmental disorder

9. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

10. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

11. Allele-Specific Gene Editing Rescues Pathology in a Human Model of Charcot-Marie-Tooth Disease Type 2E.

12. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

13. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

14. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

15. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

16. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

17. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

18. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

20. Contributors

21. New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy

22. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

23. A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

25. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

26. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

28. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

29. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

30. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

31. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

32. Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot–Marie–Tooth disease.

33. Assessing non-Mendelian inheritance in inherited axonopathies

34. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

37. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

38. Patient-Reported Symptom Burden of Charcot–Marie–Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study

40. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

41. De novo variants in DENND5B cause a neurodevelopmental disorder

42. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

43. SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.

45. Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

46. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

47. A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A.

49. Mutations in alpha‐B‐crystallin cause autosomal dominant axonal Charcot–Marie–Tooth disease with congenital cataracts

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