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3. The impact of childhood glaucoma on psychosocial functioning and quality of life: a review of the literature

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

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

10. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

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

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

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

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

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

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

22. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

23. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

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

26. Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.

27. International Study of Childhood Glaucoma

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

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

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

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

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

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

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

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

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

47. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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