201 results on '"Paperna, Tamar"'
Search Results
2. Rapid exome sequencing for children with severe acute encephalopathy – A case series
3. Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
4. Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease
5. High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants
6. Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management
7. A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel
8. A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes
9. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
10. Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population
11. Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia
12. A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
13. A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant
14. Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease
15. Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
16. Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency
17. Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency
18. A family with an atypical presentation of TBX3-related disorder
19. Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
20. Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
21. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
22. Aberrant expression of the apoptosis-related proteins BAK and MCL1 in T cells in multiple sclerosis
23. eP345: Community data-driven approach for generating cross-ethnic population carrier screening panel
24. Involvement of phosphodiesterases in autoimmune diseases
25. Translation towards personalized medicine in Multiple Sclerosis
26. A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report
27. A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel
28. Exome sequencing for neurodevelopmental disorders and the effect on patient management – a single center experience
29. Theranostics and Translation toward Personalized Medicine for Multiple Sclerosis
30. Tight junction proteins expression and modulation in immune cells and multiple sclerosis
31. Cathepsins and their endogenous inhibitors cystatins: expression and modulation in multiple sclerosis
32. A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1
33. Tu1225 MUTYH ASSOCIATED POLYPOSIS IN THE NON-JEWISH POPULATION IN NORTHER ISRAEL
34. Chronotherapy using corticosteroids for multiple sclerosis relapses
35. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
36. Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
37. Mutations in CYP11B1 and Congenital Adrenal Hyperplasia in Moroccan Jews
38. Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers
39. Junctional epidermolysis bullosa in the Middle East: Clinical and genetic studies in a series of consanguineous families
40. A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.
41. Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype
42. How Does the Mongoose Cope with α-Bungarotoxin?: Analysis of the Mongoose Muscle AChR α-Subunit
43. A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.
44. A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23
45. Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine
46. Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
47. Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt
48. Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype
49. Characterization and Expression Pattern of thefrizzledGeneFzd9,the Mouse Homolog ofFZD9Which Is Deleted in Williams–Beuren Syndrome
50. Rambam Health Care Campus Research Day Organizing Committee
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