27 results on '"Gofin, Yoel"'
Search Results
2. Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report
3. The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models.
4. Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities
5. Expanded Clinical Phenotype and Untargeted Metabolomics Analysis in RARS2-related Mitochondrial Disorder (P2-8.003)
6. Salivary C-reactive protein—a possible predictor of serum levels in pediatric acute respiratory illness
7. A familial deletion of 10p12.1 associated with thrombocytopenia.
8. P792: Amniotic fluid fetal DNA concentration is higher in females and varies with gestational age
9. P560: Community-oriented genetics: Establishing a new pediatric genetics clinic in the Muslim-Arab City of Tayibe, Israel
10. Therapeutic Drug Monitoring Increases Drug Retention of Anti–Tumor Necrosis Factor Alpha Agents in Pediatric Patients With Crohn’s Disease
11. Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia
12. Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia
13. eP132: Congenital diaphragmatic hernia as a feature of Coffin Siris syndrome type 2
14. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
15. Underlying genetic etiologies of congenital diaphragmatic hernia
16. DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition
17. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
18. Multi-tissue integrative analysis of personal epigenomes
19. The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models
20. Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans
21. Evidence thatFGFRL1contributes to congenital diaphragmatic hernia development in humans
22. Therapeutic Drug Monitoring Increases Drug Retention of Anti–Tumor Necrosis Factor Alpha Agents in Pediatric Patients With Crohn’s Disease
23. Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
24. DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.
25. A Model for Assessing the Gap between Physician Residency Demand and Present Status.
26. eP127 - Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
27. Two versus one newborn screens: Policy considerations for state newborn screening laboratories based on the Texas experience.
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