E-LIB Suche - Ergebnisse für: Shinde, Deepali N

1

Diagnostic testing laboratories are valuable partners for d..:

Towne, Meghan C. ; Rossi, Mari ; Wayburn, Bess...
Human Mutation. , 2022

2

Phenotypic expansion of the BPTF‐related neurodevelopmental..:

Glinton, Kevin E. ; Hurst, Anna C. E. ; Bowling, Kevin M....
American Journal of Medical Genetics Part A. 185 (2021) 5 - p. 1366-1378 , 2021

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

3

Variants in the SK2 channel gene (KCNN2) lead to dominant n..:

Mochel, Fanny ; Rastetter, Agnès ; Ceulemans, Berten...
Brain. 143 (2020) 12 - p. 3564-3573 , 2020

Link: https://doi.org/10.1093/..

4

A retrospective review of multiple findings in diagnostic e..:

Smith, Erica D. ; Blanco, Kirsten ; Sajan, Samin A....
Genetics in Medicine. 21 (2019) 10 - p. 2199-2207 , 2019

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

5

Biallelic VARS variants cause developmental encephalopathy ..:

Siekierska, Aleksandra ; Stamberger, Hannah ; Deconinck, Tine...
Nature Communications. 10 (2019) 1 - p. , 2019

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

6

When moments matter: Finding answers with rapid exome seque..:

Powis, Zöe ; Farwell Hagman, Kelly D. ; Blanco, Kirsten...
Molecular Genetics & Genomic Medicine. 8 (2019) 2 - p. , 2019

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

7

Biallelic mutations in the ferredoxin reductase gene cause ..:

Peng, Yanyan ; Shinde, Deepali N ; Alexander Valencia, C...
Human Molecular Genetics. 27 (2018) 12 - p. 2224-2224 , 2018

Link: https://doi.org/10.1093/..

8

An additional case of Hennekam lymphangiectasia–lymphedema ..:

Scheuerle, Angela E. ; Sweed, Nathan T. ; Timmons, Charles F....
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2858-2861 , 2018

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

9

Correction: Candidate-gene criteria for clinical reporting:..:

Farwell Hagman, Kelly D. ; Shinde, Deepali N. ; Mroske, Cameron...
Genetics in Medicine. 20 (2018) 9 - p. 1099-1102 , 2018

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

10

Classification of Genes: Standardized Clinical Validity Ass..:

Smith, Erica D. ; Radtke, Kelly ; Rossi, Mari...
Human Mutation. 38 (2017) 5 - p. 600-608 , 2017

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

11

Candidate-gene criteria for clinical reporting: diagnostic ..:

Farwell Hagman, Kelly D. ; Shinde, Deepali N. ; Mroske, Cameron...
Genetics in Medicine. 19 (2017) 2 - p. 224-235 , 2017

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

12

Deficiency of WARS2, encoding mitochondrial tryptophanyl tR..:

Theisen, Benjamin E. ; Rumyantseva, Anastasia ; Cohen, Julie S....
American Journal of Medical Genetics Part A. 173 (2017) 9 - p. 2505-2510 , 2017

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

13

DNM1encephalopathy: A new disease of vesicle fission:

von Spiczak, Sarah ; Helbig, Katherine L. ; Shinde, Deepali N....
Neurology. 89 (2017) 4 - p. 385-394 , 2017

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

14

Biallelic mutations in the ferredoxin reductase gene cause ..:

Peng, Yanyan ; Shinde, Deepali N ; Valencia, C Alexander...
Human Molecular Genetics. 26 (2017) 24 - p. 4937-4950 , 2017

Link: https://doi.org/10.1093/..

15

A recurrent mutation in KCNA2 as a novel cause of hereditar..:

Helbig, Katherine L. ; Hedrich, Ulrike B.S. ; Shinde, Deepali N....
Annals of Neurology. 80 (2016) 4 - p. , 2016

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