32 results on '"Ben Shachar, Shay"'
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2. The Genetic Landscape of Ischemic Stroke in Children - Current Knowledge and Future Perspectives
3. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
4. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
5. Early Indolent Course of Crohn’s Disease in Newly Diagnosed Patients Is Not Rare and Possibly Predictable
6. Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation
7. Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
8. Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules
9. The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing
10. A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin
11. Advances in Molecular Diagnosis of Neurofibromatosis Type 1
12. Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women
13. Fever-induced Brugada pattern: How common is it and what does it mean?
14. Large-scale population screening for spinal muscular atrophy: Clinical implications
15. Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress
16. Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN
17. eP291 - Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome
18. Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication
19. 894: Can we predict yield of Chromosomal Microarray in intrauterine growth restriction according to clinical parameters?
20. 899: Microarray in 562 pregnancies with polyhydramnios – do the degree and week of diagnosis matter?
21. 898: What have we learned from 691 prenatal Chromosomal microarrays for ventricular septal defects?
22. Ube3a/E6AP is involved in a subset of MeCP2 functions
23. Su1922 - Conventional Biomarkers in Newly Diagnosed Crohn's Disease Patients may Predict Early Disease Progression
24. A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews
25. Tu1846 - Genotype-Serotype Interactions Shed Light on of the Pathophysiology Inflammatory Bowel Diseases
26. Sa1826 - Complications of Newly Diagnosed Crohn's Disease can be Predicted by Mathematical Modeling of Serologic Responses
27. 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome
28. Tu1383 Serologic and Genetic Markers May Predict the Development of Chronic Pouchitis After Pouch Surgery in Ulcerative Colitis Patients
29. Mo1752 miR-424 May Regulate Transcripts Involved in the Pathogenesis of Inflammatory Bowel Diseases-Suggested Mechanism
30. Sa1177 Ulcerative Colitis Patients Undergoing Pouch Surgery Due to Non-Refractory Disease Have a Better Outcome Compared to Those Operated Due to Refractory Inflammation
31. Tu1928 Gene Expression Alterations Suggest That Ulcerative Colitis Patients After Restorative Proctocolectomy Have Ileal Disease
32. Tu1929 MicroRNAs Expression in Ileal Inflammatory Bowel Disease Correlates With Disease Behavior
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