135 results on '"Applegate, Carolyn"'
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2. The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective From the Pulmonary Fibrosis Foundation Genetic Testing Work Group
3. A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
4. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
5. Diagnostic utility of telomere length testing in a hospital-based setting
6. Short telomere syndromes cause a primary T cell immunodeficiency
7. P653: Mosaic X-ring chromosomes (45,X/46,X,r(X)) in Turner syndrome (TS): A case series highlighting 42 years of experience in a single-institution
8. Chapter 17 - Genetic Counseling and Risk Assessment
9. Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
10. Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results
11. Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout
12. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features
13. Case Study Contributors
14. Chapter Contributors
15. CRB1-Related Maculopathy With Cystoid Macular Edema
16. Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot
17. Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum
18. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
19. A novel presentation of DYT 16: Acute onset in infancy and association with MRI abnormalities
20. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype
21. A Rasopathy Phenotype With Severe Congenital Hypertrophic Obstructive Cardiomyopathy Associated With a PTPN11 Mutation and a Novel Variant in SOS1†
22. Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
23. Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
24. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
25. Elements of genetic counseling for inborn errors of metabolism
26. Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
27. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
28. Diagnostic utility of telomere length measurement in a hospital setting
29. KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction
30. Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability
31. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene
32. Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease
33. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
34. Elements of genetic counseling for inborn errors of metabolism
35. Self-Ratings of Eight Factors of Quality Management at Naval Avionics Center
36. Total Quality Management in Ten Exemplary Department of Defense Organizations: Lessons Learned, Innovative Practices, and Quality Measurements
37. KIF5Amutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction
38. Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis–emphysema
39. Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
40. Enrolling Genomics Research Participants through a Clinical Setting: the Impact of Existing Clinical Relationships on Informed Consent and Expectations for Return of Research Results.
41. The impact of chromosomal microarray on clinical management: a retrospective analysis
42. Severe infantile epileptic encephalopathy due to mutations inPLCB1: expansion of the genotypic and phenotypic disease spectrum
43. High-Dose Glucocorticoid Therapy in the Management of Seizures in Neonatal Incontinentia Pigmenti
44. Missense variants in the chromatin remodeler CHD1are associated with neurodevelopmental disability
45. A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with aPTPN11mutation and a novel variant inSOS1
46. Self-ratings of eight factors of quality management at Naval Avionics Center
47. High-Dose Glucocorticoid Therapy in the Management of Seizures in Neonatal Incontinentia Pigmenti: A Case Report.
48. Highlights of Total Quality Management in the Department of Defense: lessons learned, quality measurements and innovative practices
49. Highlights of Total Quality Management in the Department of Defense: Lessons Learned, Quality Measurements and Innovative Practices
50. Self-Ratings of Eight Factors of Quality Management at Naval Avionics Center
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