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1. Patterns of peripartum depression and anxiety during the pre-vaccine COVID-19 pandemic

2. Altered Sox9 and FGF signaling gene expression in Aga2 OI mice negatively affects linear growth.

3. Nosology of genetic skeletal disorders: 2023 revision.

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

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

6. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

7. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

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

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

10. 4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta.

11. De novo variants in DENND5B cause a neurodevelopmental disorder

12. Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model

13. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

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

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

16. Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes

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

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

19. Emergency department use among postpartum women with mental health disorders

20. Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

21. Clinical Presentation of Coronavirus Disease 2019 (COVID-19) in Pregnant and Recently Pregnant People.

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

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

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

25. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

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

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

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

29. Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase

30. A new biometric: In utero growth curves for metacarpal and phalangeal lengths reveal an embryonic patterning ratio.

32. Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.

33. Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome—osteogenesis imperfecta.

35. The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling

36. NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot

37. Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network.

38. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

41. Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study

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

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

46. Clinical and radiographic delineation of Bent Bone Dysplasia‐FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel‐shaped Phalanges

47. IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

48. TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions.

49. Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase

50. Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V

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