553 results on '"Shohat, Mordechai"'
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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. The Genetic Architecture of down Syndrome Phenotypes Revealed by High-Resolution Analysis of Human Segmental Trisomies
30. A New BCl6 Transcriptional Corepressor Variant Mosaicism in a Fetus with Severe Fetal-Eye Anomalies
31. High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses
32. Familial Clustering of Site-Specific Cancer Risks Associated with BRCA1 and BRCA2 Mutations in the Ashkenazi Jewish Population
33. 844ins68 in the cystathionine β-synthase gene in Israel and review of its distribution in the world
34. Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo-Optic Dysplasia
35. Impact of Homocysteine-Lowering Vitamin Therapy on Long-Term Outcome of Patients With Coronary Artery Disease
36. Autosomal Dominant Non-Syndromic Hearing Loss Maps to DFNA33 (13q34) and Co-Segregates with Splice Site Variants in ATP11A, A Phospholipid Flippase Gene
37. Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population
38. The Impact of Consanguinity Worldwide
39. Homozygous MED25 mutation implicated in eye-intellectual disability syndrome
40. Severe combined immunodeficiency (SCID): From the detection of a new mutation to preimplantation genetic diagnosis
41. X inactivation testing for identifying a non-syndromic X-linked mental retardation gene
42. Thrombophilic polymorphisms in Israel
43. SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system
44. Abnormal brain magnetic resonance imaging in two patients with Smith–Magenis syndrome
45. Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy
46. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome
47. Mutations in NDUFAF3 (C30RF60), encoding an NDUFAF4 (C60RF66)- interacting complex I assembly protein, cause fatal neonatal mitochondrial disease
48. Benefit versus risk of chromosomal microarray analysis performed in pregnancies with normal and positive prenatal screening results: A retrospective study
49. High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.
50. The phenotype of 15 cases with rare 8q24.13‐q24.3 deletions–A new syndrome or still an enigma?
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