E-LIB Suche - Ergebnisse für: Maya Chopra

1

Lessons from two series by physicians and caregivers' self‐..:

Ruault, Valentin ; Burger, Pauline ; Gradels‐Hauguel, Johanna...
Molecular Genetics & Genomic Medicine. 12 (2024) 1 - p. , 2024

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

2

Clinical utility of a genetic diagnosis in individuals with..:

Santana Almansa, Alexandra ; Gable, Dustin L. ; Frazier, Zoë...
Annals of Clinical and Translational Neurology. 11 (2024) 2 - p. 251-262 , 2024

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

3

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L..:

Cordova, Ineke ; Blesson, Alyssa ; Savatt, Juliann M....
Genes. 15 (2024) 4 - p. 423 , 2024

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

4

Clinical variants paired with phenotype: A rich resource fo..:

Chopra, Maya ; Savatt, Juliann M. ; Bingaman, Taylor I....
Genetics in Medicine. 26 (2024) 3 - p. 101035 , 2024

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

5

Toward representative genomic research: the children's rare..:

Frazier, Zoë J. ; Brown, Eurnestine ; Rockowitz, Shira...
Therapeutic Advances in Rare Disease. 4 (2023) - p. , 2023

Link: https://doi.org/10.1177/..

6

Updated consensus guidelines on the management of Phelan–Mc..:

Srivastava, Siddharth ; Sahin, Mustafa ; Buxbaum, Joseph D....
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2015-2044 , 2023

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

7

Creating an automated contemporaneous cohort in sickle cell..:

Cronin, Robert M. ; Wuichet, Kristin ; Ghafuri, Djamila L...
Blood Advances. 7 (2023) 15 - p. 3775-3782 , 2023

Link: https://doi.org/10.1182/..

8

Mild MDPL in a patient with a novel de novo missense varian..:

Chopra, Maya ; Caswell, Richard ; Barcia, Giulia...
European Journal of Human Genetics. 30 (2022) 8 - p. 960-966 , 2022

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

9

Mendelian etiologies identified with whole exome sequencing..:

Chopra, Maya ; Gable, Dustin L. ; Love‐Nichols, Jamie...
Annals of Clinical and Translational Neurology. 9 (2022) 2 - p. 193-205 , 2022

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

10

GENE TARGET: A framework for evaluating Mendelian neurodeve..:

Chopra, Maya ; Modi, Meera E. ; Dies, Kira A....
Molecular Therapy - Methods & Clinical Development. 27 (2022) - p. 32-46 , 2022

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

11

Sexual violence as a precipitator of chronic pain in young ..:

Chopra, Maya ; Byrd, Jeannie ; Wuichet, Kristin.
Blood Advances. 6 (2022) 16 - p. 4831-4833 , 2022

Link: https://doi.org/10.1182/..

12

Elucidating Rare Mendelian Disease in Cerebral Palsy Clinic..:

Gable, Dustin L. ; Chopra, Maya ; Love-Nichols, Jamie...
Neurology. 96 (2021) 15_supplement - p. , 2021

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

13

CHEDDAsyndrome is an underrecognized neurodevelopmental dis..:

Palmer, Elizabeth E. ; Whitton, Chloe ; Hashem, Mais O....
Clinical Genetics. 100 (2021) 4 - p. 468-477 , 2021

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

14

Sex Differences in Coronary Arterial Calcification in Sympt..:

Kim, Beom Soo ; Chan, Nicholas ; Hsu, Greg...
The American Journal of Cardiology. 149 (2021) - p. 16-20 , 2021

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

15

Heterozygous ANKRD17 loss of function variants cause a synd..:

Chopra, Maya ; McEntagart, Meriel ; Clayton-Smith, Jill...
Molecular Genetics and Metabolism. 132 (2021) - p. S99 , 2021

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