137 results on '"Almomani, Rowida"'
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2. Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy
3. Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome
4. Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy
5. COL6A5 variants in familial neuropathic chronic itch
6. Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.
7. A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy
8. Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis
9. TIMAP Upregulation Correlates Negatively with Survival in HER2- Negative Subtypes of Breast Cancer
10. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene
11. Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy
12. IL-33/13 Axis and IL-4/31 Axis Play Distinct Roles in Inflammatory Process and Itch in Psoriasis and Atopic Dermatitis
13. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
14. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
15. IL-33/13 Axis and IL-4/31 Axis Play Distinct Roles in Inflammatory Process and Itch in Psoriasis and Atopic Dermatitis
16. Elevated interleukin 31 serum levels in hemodialysis patients are associated with uremic pruritus
17. Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of EXT1 and EXT2 genes
18. Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics
19. GPSM2 and Chudley–McCullough Syndrome: A Dutch Founder Variant Brought to North America
20. Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)
21. Exome Sequencing Identifies A Branch Point Variant in Aarskog–Scott Syndrome
22. LAT1 (SLC7A5) Overexpression in Negative Her2 Group of Breast Cancer: A Potential Therapy Target
23. Identification of a Novel Gain-of-Function Sodium Channel B2 Subunit Mutation in Small Fiber Neuropathy
24. Yield of peripheral sodium channels gene screening in pure small fibre neuropathy
25. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy
26. Evaluation of Patched-1 Protein Expression Level in Low Risk and High Risk Basal Cell Carcinoma Subtypes
27. Erratum to “Basal Cell Carcinoma Pathology Requests and Reports Are Lacking Important Information”
28. Basal Cell Carcinoma Pathology Requests and Reports Are Lacking Important Information
29. Yield of peripheral sodium channels gene screening in pure small fibre neuropathy
30. Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of EXT1 and EXT2 genes.
31. A gain-of-function sodium channelβ2-subunit mutation in painful diabetic neuropathy
32. Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.
33. Clinical and Demographic Features of Basal Cell Carcinoma in North Jordan
34. COL6A5variants in familial neuropathic chronic itch
35. A gain-of-function sodium channel β2-subunit mutation in painful diabetic neuropathy.
36. Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy
37. Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy
38. Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy
39. Exome Sequencing and Haplotype Sharing Analyses Result in the Identification of Novel Genetic Causes of Cardiomyopathies
40. Abstract 18895: A Novel Gene Involved in Severe Neonatal Cardiomyopathy
41. Abstract 15882: Gene-Panel Based Next Generation Sequencing (NGS) Greatly Improves Clinical Genetic Diagnostics in Inherited Cardiomyopathies
42. GPSM2and Chudley-McCullough Syndrome: A Dutch Founder Variant Brought to North America
43. Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants inTPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)
44. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
45. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
46. Experiences with array-based sequence capture; toward clinical applications
47. Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene
48. GPSM 2 and Chudley- Mc Cullough Syndrome: A Dutch Founder Variant Brought to North America.
49. Experiences with array-based sequence capture; toward clinical applications.
50. Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.
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