E-LIB Suche - Ergebnisse für: Azamian, Mahshid S.

1

PO-04-024 A NOVEL OUTPATIENT TREATMENT STRATEGY FOR VENTRIC..:

Lang, Anna ; Arredondo, Maria J. ; Stephens, Sara...
Heart Rhythm. 21 (2024) 5 - p. S510-S511 , 2024

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

2

PO-04-029 NUTRITIONAL VITAMIN SUPPLEMENTATION IS AN ALTERNA..:

Arredondo Sancristobal, Maria Jose ; Chen, Yifan ; Hoyt, Walter J....
Heart Rhythm. 21 (2024) 5 - p. S513-S514 , 2024

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

3

Loss of the endoplasmic reticulum protein Tmem208 affects c..:

Dutta, Debdeep ; Kanca, Oguz ; Shridharan, Rishi V....
Proceedings of the National Academy of Sciences. 121 (2024) 9 - p. , 2024

Link: https://doi.org/10.1073/..

4

Bi-allelic ATG4D variants are associated with a neurodevelo..:

Morimoto, Marie ; Bhambhani, Vikas ; Gazzaz, Nour...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

5

Continuing a search for a diagnosis: the impact of adolesce..:

Miller, Ilana M. ; Yashar, Beverly M. ; Acosta, Maria T....
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

6

Early initiation of B‐vitamin supplementation may reduce sy..:

Miyake, Christina Y. ; Ehsan, Saad A. ; Zhang, Lilei...
American Journal of Medical Genetics Part A. , 2023

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

7

A Multicenter Analysis of Abnormal Chromosomal Microarray F..:

Landis, Benjamin J. ; Helvaty, Lindsey R. ; Geddes, Gabrielle C....
Journal of the American Heart Association. 12 (2023) 18 - p. , 2023

Link: https://doi.org/10.1161/..

8

Neurodevelopmental and other phenotypes recurrently associa..:

Sewani, Soha ; Azamian, Mahshid S. ; Mendelsohn, Bryce A....
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

9

A concurrent dual analysis of genomic data augments diagnos..:

Spillmann, Rebecca C. ; Tan, Queenie K.-G. ; Reuter, Chloe...
Genetics in Medicine. 25 (2023) 4 - p. 100353 , 2023

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

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SPTSSA variants alter sphingolipid synthesis and cause a co..:

Srivastava, Siddharth ; Shaked, Hagar Mor ; Gable, Kenneth...
Brain. 146 (2023) 4 - p. 1420-1435 , 2023

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

11

The microRNA processorDROSHAis a candidate gene for a sever..:

Barish, Scott ; Senturk, Mumine ; Schoch, Kelly...
Human Molecular Genetics. 31 (2022) 17 - p. 2934-2950 , 2022

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

12

Wide range of phenotypic severity in individuals with late ..:

Keehan, Laura ; Haviland, Isabel ; Gofin, Yoel...
American Journal of Medical Genetics Part A. 188 (2022) 12 - p. 3516-3524 , 2022

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

13

Quality of life, illness perceptions, and parental lived ex..:

Murali, Chaya N. ; Lalani, Seema R. ; Azamian, Mahshid S...
European Journal of Human Genetics. , 2022

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

14

Mitochondrial DNA maintenance defects: potential therapeuti..:

Almannai, Mohammed ; El-Hattab, Ayman W. ; Azamian, Mahshid S...
Molecular Genetics and Metabolism. 137 (2022) 1-2 - p. 40-48 , 2022

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

15

LMOD2‐related dilated cardiomyopathy presenting in late inf..:

Lay, Erica ; Azamian, Mahshid S. ; Denfield, Susan W....
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1858-1862 , 2022

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