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2. Telomerase mutations in families with idiopathic pulmonary fibrosis.

3. An improved polymerase chain reaction (PCR) protocol for unambigous detection of growth hormone gene deletions

4. A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases.

5. Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

6. Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition.

7. Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.

8. Recurrent Myalgia, Dark Urine, and Exercise Intolerance: Glycogen Storage Disease Type X Diagnosed Through Gene Sequencing Panel.

9. The Clinical Spectrum of Mosaic Genetic Disease.

10. Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.

11. Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.

12. Data from electronic healthcare records expand our understanding of X-linked genetic diseases.

13. Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.

14. De novo variants in DENND5B cause a neurodevelopmental disorder.

15. Probable digenic inheritance of Diamond-Blackfan anemia.

16. A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.

17. Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.

18. The contribution of mosaicism to genetic diseases and de novo pathogenic variants.

19. The Genetic Landscape of Familial Pulmonary Fibrosis.

20. Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.

21. A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male.

23. Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases.

24. Efficacy of virtual and asynchronous teaching of computer-assisted diagnosis of genetic diseases seen in clinics.

25. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

26. Evidence of feedback regulation of C-type natriuretic peptide during Vosoritide therapy in Achondroplasia.

27. Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.

29. Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.

30. Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants.

31. Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.

32. Mitochondrial NADP + is essential for proline biosynthesis during cell growth.

33. Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.

34. Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

35. Limitations of exome sequencing in detecting rare and undiagnosed diseases.

36. Development and Progression of Radiologic Abnormalities in Individuals at Risk for Familial Interstitial Lung Disease.

37. Defining the clinical phenotype of Saul-Wilson syndrome.

38. IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.

39. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

40. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

41. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

42. Phenotypic heterogeneity of ZMPSTE24 deficiency.

43. Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.

45. Nano-Calorimetry based point of care biosensor for metabolic disease management.

46. Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.

48. Cystic fibrosis in Afro-Brazilians: XK haplotypes analysis supports the European origin of p.F508del mutation.

49. Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

50. Answers to Epilogue questions.

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