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21 results on '"Bolkier, Yoav"'

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1. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

4. Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

5. Mitochondrial augmentation of hematopoietic stem cells in children with single large-scale mitochondrial DNA deletion syndromes

6. Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

7. Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects

8. Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.

9. Biallelic DAW1variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

10. A founder truncating variant inGDF1causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds

11. Comparison of Speckle Tracking Echocardiography During Different Pacing Modalities for Cardiac Resynchronization Therapy Response Prediction.

14. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

15. A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.

16. MiRNA-208a as a Sensitive Early Biomarker for the Postoperative Course Following Congenital Heart Defect Surgery.

19. High-dose aspirin for Kawasaki disease: outdated myth or effective aid?

20. Long-term hematopoietic dysfunction in patients with large-scale mitochondrial DNA deletion syndromes.

21. High-dose aspirin for Kawasaki disease: outdated myth or effective aid?

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