160 results on '"Shohat, Mordechai"'
Search Results
2. Bi-allelic variants in INTS11 are associated with a complex neurological disorder
3. Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses
4. Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
5. The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
6. A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum
7. Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly
8. A study of normal copy number variations in Israeli population
9. Eculizumab-Responsive Adult Onset Protein Losing Enteropathy, Caused by Germline CD55-Deficiency and Complicated by Aggressive Angiosarcoma
10. Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center
11. Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1–8 does not cause Beals syndrome
12. 1063 Prenatal Exome in low-risk pregnancies and apparently normal fetuses – the rate of abnormal findings
13. A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
14. Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
15. The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients
16. Whole exome germline sequencing in early‐onset prostate cancer patients: Genomic findings and clinical outcomes
17. A beneficial role of GLP-1 receptor agonist therapy in ABCC8-MODY (MODY 12)
18. Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease
19. The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations
20. Whole exome germline sequencing in early‐onset prostate cancer patients: Genomic findings and clinical outcomes.
21. Bi-allelic variants in INTS11 are associated with a complex neurological disorder
22. Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
23. Proximal 1q21 duplication: A syndrome or a susceptibility locus?
24. Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia
25. Homozygous MED25 mutation implicated in eye–intellectual disability syndrome
26. Prenatal diagnosis of microcephaly as shown by plateauing of head circumference growth during the 3rd trimester in a fetus with a CCND2 inverse growth variant
27. Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay
28. JAK2V617F Is a Risk Factor for TIA/Stroke in Young Patients
29. A New BCl6 Transcriptional Corepressor Variant Mosaicism in a Fetus with Severe Fetal-Eye Anomalies
30. High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses
31. Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo-Optic Dysplasia
32. Autosomal Dominant Non-Syndromic Hearing Loss Maps to DFNA33 (13q34) and Co-Segregates with Splice Site Variants in ATP11A, A Phospholipid Flippase Gene
33. Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population
34. Homozygous MED25 mutation implicated in eye-intellectual disability syndrome
35. Benefit versus risk of chromosomal microarray analysis performed in pregnancies with normal and positive prenatal screening results: A retrospective study
36. High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.
37. The phenotype of 15 cases with rare 8q24.13‐q24.3 deletions–A new syndrome or still an enigma?
38. Eculizumab-Responsive Adult Onset Protein Losing Enteropathy, Caused by Germline CD55-Deficiency and Complicated by Aggressive Angiosarcoma
39. A study of normal copy number variations in Israeli population
40. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness geneATOH1
41. Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting?
42. Grandparental genotyping enhances exome variant interpretation
43. Isolated ventricular septal defects demonstrated by fetal echocardiography: prenatal course and postnatal outcome
44. Isolated ventricular septal defects demonstrated by fetal echocardiography: prenatal course and postnatal outcome.
45. c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype
46. BRPF1 ‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family
47. Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood
48. When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations
49. Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
50. Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C
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