E-LIB Suche - Ergebnisse für: Aggarwal, Vimla

1

P002: Investigating the impact of the 2022 ClinGen missense..:

Groopman, Emily ; Goldstein, Jenny ; Thomas-Wilson, Amanda...
Genetics in Medicine Open. 2 (2024) - p. 100879 , 2024

Link: https://doi.org/10.1016/..

2

P702: Mosaic monosomy/partial trisomy 13 resulting from an ..:

Bi, Xin ; Iglesias, Alejandro ; Levy, Brynn.
Genetics in Medicine Open. 2 (2024) - p. 101606 , 2024

Link: https://doi.org/10.1016/..

3

P641: Application of AlphaMissense prediction to pathogenic..:

Zhuo, Xinming ; Aggarwal, Vimla ; Liao, Jun
Genetics in Medicine Open. 2 (2024) - p. 101547 , 2024

Link: https://doi.org/10.1016/..

4

P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Vari..:

Mohan, Shruthi ; Geck, Renee ; Fayer, Shawn...
Genetics in Medicine Open. 2 (2024) - p. 100885 , 2024

Link: https://doi.org/10.1016/..

5

The challenges and opportunities of offering and integratin..:

Deignan, Joshua L. ; Aggarwal, Vimla ; Bale, Allen E....
Genetics in Medicine Open. , 2024

Link: https://doi.org/10.1016/..

6

ClinGen variant curation expert panel recommendations for c..:

Goldstein, Jennifer ; Thomas-Wilson, Amanda ; Groopman, Emily...
Molecular Genetics and Metabolism. 142 (2024) 1 - p. 108362 , 2024

Link: https://doi.org/10.1016/..

7

Investigation into the genetics of fetal congenital lymphat..:

Rogerson, Daniella ; Alkelai, Anna ; Giordano, Jessica...
Prenatal Diagnosis. 43 (2023) 6 - p. 703-716 , 2023

Link: https://doi.org/10.1002/..

8

Contributors:

, In: Human Reproductive and Prenatal Genetics,

Aggarwal, Vimla ; Barber, T.M. ; Becker, Christian M.... - p. xiii-xix , 2023

Link: https://doi.org/10.1016/..

9

Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:

Happ, Hannah C. ; Sadleir, Lynette G. ; Zemel, Matthew...
Neurology. 100 (2023) 6 - p. , 2023

Link: https://doi.org/10.1212/..

10

Chromosomal microarrays and next-generation sequencing for ..:

, In: Human Reproductive and Prenatal Genetics,

Levy, Brynn ; Stosic, Melissa ; Giordano, Jessica.. - p. 767-787 , 2023

Link: https://doi.org/10.1016/..

11

Impact of pre‐emptive rapid testing for glucose‐6‐phosphate..:

Ganapathi, Mythily ; Campbell, Peter ; Ofori, Kenneth...
British Journal of Clinical Pharmacology. 88 (2022) 9 - p. 4163-4170 , 2022

Link: https://doi.org/10.1111/..

12

Fetal central nervous system anomalies: When should we offe..:

Baptiste, Caitlin ; Mellis, Rhiannon ; Aggarwal, Vimla...
Prenatal Diagnosis. 42 (2022) 6 - p. 736-743 , 2022

Link: https://doi.org/10.1002/..

13

The benefit of diagnostic whole genome sequencing in schizo..:

Alkelai, Anna ; Greenbaum, Lior ; Docherty, Anna R....
Molecular Psychiatry. 27 (2021) 3 - p. 1435-1447 , 2021

Link: https://doi.org/10.1038/..

14

A novel de novo KDM5C variant in a female with global devel..:

Lippa, Natalie C. ; Barua, Subit ; Aggarwal, Vimla..
BMC Neurology. 21 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

15

Truncating variants in the SHANK1 gene are associated with ..:

May, Halie J. ; Jeong, Jaehoon ; Revah-Politi, Anya...
Genetics in Medicine. 23 (2021) 10 - p. 1912-1921 , 2021

Link: https://doi.org/10.1038/..