51 results on '"Lehman, Anna"'
Search Results
2. FollowME Fabry Pathfinders Registry: Renal effectiveness in a cohort of patients on migalastat treatment for at least three years
3. Glycosphingolipid evaluation for Fabry disease patients receiving migalastat after switching from enzyme replacement therapy
4. Chest pain subtype prevalence in the British Columbia cohort of the Canadian Fabry Disease Initiative
5. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
6. Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22)
7. Dominant Negative Variants in IKZF2 Cause ICHAD Syndrome, a New Disorder Characterized by Immunodysregulation, Craniofacial Anomalies, Hearing Impairment, Athelia, and Developmental Delay
8. FollowME Fabry Pathfinders registry: Renal effectiveness in a multi-national, multi-center cohort of patients on migalastat treatment for at least three years
9. Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population
10. The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit
11. Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
12. PO-655-05 IS ANKYRIN-2 A POTENTIAL GENETIC MODIFIER IN PEDIATRIC CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA?
13. Return of Results Policies for Genomic Research: Current Practices and the Hearts in Rhythm Organization (HiRO) Approach
14. Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?
15. Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada
16. PIGG variant pathogenicity assessment reveals characteristic features within 19 families
17. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
18. Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada
19. Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
20. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
21. Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism
22. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
23. High rate of hypertension in patients with m.3243A>G MELAS mutations and POLG variants
24. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
25. The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms
26. The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders
27. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
28. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
29. AN INHERITED DISTAL 16P11.2 DELETION DEMONSTRATES VARIABLE EXPRESSIVITY AND INCOMPLETE PENETRANCE FOR PSYCHIATRIC ILLNESS AS WELL AS ASSOCIATION WITH RHIZOMELIC SHORTENING: A CASE REPORT
30. PATIENT OUTCOMES OF PSYCHIATRIC GENETIC COUNSELING: ASSESSING THE IMPACT OF DIFFERENT FAMILY HISTORY COLLECTION MODALITIES
31. Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
32. The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study
33. Mutations in Kv7.5 Channels Associated with Intellectual Disability or Epileptic Encephalopathy
34. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
35. Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation
36. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
37. Cost Analysis of Patients Referred for Inherited Heart Rhythm Disorder Evaluation
38. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
39. A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia
40. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation
41. De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
42. Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1
43. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
44. Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
45. Mutations in NOTCH1 Cause Adams-Oliver Syndrome
46. Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
47. Corneal findings in Parry–Romberg syndrome
48. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
49. Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly
50. A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
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