E-LIB Suche - Ergebnisse für: Estrella, Elicia

1

Recommendations for the Management of Initial and Refractor..:

Vogt, Lindsey M. ; Yang, Kathryn ; Tse, Gabriel...
Movement Disorders. , 2024

2

Variants in DTNA cause a mild, dominantly inherited muscula..:

Nascimento, Andres ; Bruels, Christine C. ; Donkervoort, Sandra...
Acta Neuropathologica. 145 (2023) 4 - p. 479-496 , 2023

Link: https://doi.org/10.1007/..

3

Bi-allelic variants in HMGCR cause an autosomal-recessive p..:

Morales-Rosado, Joel A. ; Schwab, Tanya L. ; Macklin-Mantia, Sarah K....
The American Journal of Human Genetics. 110 (2023) 6 - p. 989-997 , 2023

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

4

Evolving approaches to prenatal genetic counseling for Spin..:

Zettler, Bethany ; Estrella, Elicia ; Liaquat, Khalida.
Journal of Genetic Counseling. 31 (2022) 3 - p. 803-814 , 2022

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

5

Mendelian Disorders in an Interstitial Cystitis/Bladder Pai..:

Estrella, Elicia ; Rockowitz, Shira ; Thorne, Marielle...
Advanced Genetics. 4 (2022) 1 - p. , 2022

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

6

Diagnostic capabilities of nanopore long‐read sequencing in..:

Bruels, Christine C. ; Littel, Hannah R. ; Daugherty, Audrey L....
Annals of Clinical and Translational Neurology. 9 (2022) 8 - p. 1302-1309 , 2022

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

7

Upper motor neuron signs and early onset gait abnormalities..:

Gable, Dustin L. ; Mo, Alisa ; Estrella, Elicia...
American Journal of Medical Genetics Part A. 188 (2022) 12 - p. 3531-3534 , 2022

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

8

Massachusetts' Findings from Statewide Newborn Screening fo..:

Hale, Jaime E. ; Darras, Basil T. ; Swoboda, Kathryn J....
International Journal of Neonatal Screening. 7 (2021) 2 - p. 26 , 2021

Link: https://doi.org/10.3390/..

9

Hunting for the perfect test: Neuromuscular diagnosis in th..:

Estrella, Elicia A. ; Kang, Peter B.
Muscle & Nerve. 63 (2021) 3 - p. 282-284 , 2021

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

10

Rare known pathogenic variants for urogenital disorders in ..:

Brownstein, Catherine ; Estrella, Elicia ; Rockowitz, Shira...
Molecular Genetics and Metabolism. 132 (2021) - p. S127 , 2021

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

11

POLRMT mutations impair mitochondrial transcription causing..:

Oláhová, Monika ; Peter, Bradley ; Szilagyi, Zsolt...
Nature Communications. 12 (2021) 1 - p. , 2021

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

12

Cover:

Bruels, Christine C. ; Li, Chengcheng ; Mendoza, Tonatiuh...
Molecular Genetics & Genomic Medicine. 7 (2019) 3 - p. , 2019

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

13

Identification of a pathogenic mutation in ATP2A1 via in si..:

Bruels, Christine C. ; Li, Chengcheng ; Mendoza, Tonatiuh...
Molecular Genetics & Genomic Medicine. 7 (2019) 3 - p. , 2019

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

14

Homozygous nonsense mutation inSGCAis a common cause of lim..:

Reddy, Hemakumar M. ; Hamed, Sherifa A. ; Lek, Monkol...
Muscle & Nerve. 54 (2016) 4 - p. 690-695 , 2016

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

15

The sensitivity of exome sequencing in identifying pathogen..:

Reddy, Hemakumar M ; Cho, Kyung-Ah ; Lek, Monkol...
Journal of Human Genetics. 62 (2016) 2 - p. 243-252 , 2016

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