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1. Aster-dependent nonvesicular transport facilitates dietary cholesterol uptake

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

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

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

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

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

7. The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders

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. Macrophage COX2 Mediates Efferocytosis, Resolution Reprogramming, and Intestinal Epithelial Repair

13. Long-Term Dietary Changes in Subjects with Glucose Galactose Malabsorption Secondary to Biallelic Mutations of SLC5A1

14. The Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree

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

16. Expansion of NEUROD2 phenotypes to include developmental delay without seizures

17. Intestinal adaptation following spring insertion into a roux limb in mice

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

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

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

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

22. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

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

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

25. Gut-on-a-chip: Current progress and future opportunities

26. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

27. DNA Methylation Analysis Validates Organoids as a Viable Model for Studying Human Intestinal Aging

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

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

30. Apolipoprotein A-I mimetics mitigate intestinal inflammation in COX2-dependent inflammatory bowel disease model

31. Esophageal IgG4

32. EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.

33. Intestinal epithelial replacement by transplantation of cultured murine and human cells into the small intestine.

34. Apical Membrane Alterations in Non-intestinal Organs in Microvillus Inclusion Disease

35. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

40. Intestinal Enteroendocrine Lineage Cells Possess Homeostatic and Injury-Inducible Stem Cell Activity

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

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

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

44. Predictors of Enteral Autonomy in Children with Intestinal Failure: A Multicenter Cohort Study

45. Pharmacologically blocking p53-dependent apoptosis protects intestinal stem cells and mice from radiation.

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

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

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

49. From Diarrhea to Obesity in Prohormone Convertase 1/3 Deficiency

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