17 results on '"Gofin, Yoel"'
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2. The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models.
3. Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities
4. Expanded Clinical Phenotype and Untargeted Metabolomics Analysis in RARS2-related Mitochondrial Disorder (P2-8.003)
5. Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report
6. A familial deletion of 10p12.1 associated with thrombocytopenia.
7. P792: Amniotic fluid fetal DNA concentration is higher in females and varies with gestational age
8. P560: Community-oriented genetics: Establishing a new pediatric genetics clinic in the Muslim-Arab City of Tayibe, Israel
9. Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia
10. Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia
11. eP132: Congenital diaphragmatic hernia as a feature of Coffin Siris syndrome type 2
12. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
13. Underlying genetic etiologies of congenital diaphragmatic hernia
14. DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition
15. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
16. DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.
17. Two versus one newborn screens: Policy considerations for state newborn screening laboratories based on the Texas experience.
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