E-LIB Suche - Ergebnisse für: Tarnopolsky, Mark A

1

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
Journal of Clinical Investigation. 134 (2024) 1 - p. , 2024

Link: https://doi.org/10.1172/..

2

Next generation sequencing reveals novel compound heterozyg..:

Marshall, Aren E. ; Brady, Lauren ; Yeh, Ed...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

3

Missense variant in PIGM associated with severe cystic ence..:

Brady, Lauren ; Yadav, Rashmi ; Edmondson, Andrew C..
American Journal of Medical Genetics Part A. , 2024

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

4

Evaluation of the diagnostic accuracy of exome sequencing a..:

Hartley, Taila ; Marshall, Deborah ; Acker, Meryl...
Genetics in Medicine. 26 (2024) 2 - p. 101012 , 2024

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

5

Investigating the effects of dopamine on short‐ and long‐la..:

Foglia, Stevie D. ; Adams, Faith C. ; Ramdeo, Karishma R....
The Journal of Physiology. 602 (2024) 10 - p. 2253-2264 , 2024

Link: https://doi.org/10.1113/..

6

Secondary mitochondrial dysfunction across the spectrum of ..:

Mak, Gloria ; Tarnopolsky, Mark ; Lu, Jian-Qiang
Mitochondrion. , 2024

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

7

A case of mixed hereditary gelsolin amyloidosis and hydroxy..:

Mak, Gloria ; Tarnopolsky, Mark ; Lu, Jian-Qiang
Acta Neurologica Belgica. , 2024

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

8

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760965/. , 2024

Link: http://www.ncbi.nlm.nih...

9

The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
Brain. 146 (2023) 8 - p. 3273-3288 , 2023

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

10

Novel Multi-Ingredient Supplement Facilitates Weight Loss a..:

Nederveen, Joshua P. ; Mastrolonardo, Alexander J. ; Xhuti, Donald...
Nutrients. 15 (2023) 17 - p. 3693 , 2023

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

11

Metabolic features of treatment-refractory major depressive..:

Pan, Lisa A. ; Naviaux, Jane C. ; Wang, Lin...
Translational Psychiatry. 13 (2023) 1 - p. , 2023

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

12

Efficacy and Safety of Elamipretide in Individuals With Pri..:

Karaa, Amel ; Bertini, Enrico ; Carelli, Valerio...
Neurology. 101 (2023) 3 - p. , 2023

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

13

A Multi-Ingredient Supplement Protects against Obesity and ..:

Nilsson, Mats I. ; May, Linda ; Roik, Liza J....
Nutrients. 15 (2023) 3 - p. 611 , 2023

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

14

The epilepsy phenotype of ST3GAL3‐related developmental and..:

Whitney, Robyn ; Jain, Puneet ; RamachandranNair, Rajesh...
Epilepsia Open. 8 (2023) 2 - p. 623-632 , 2023

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

15

Attrition from paediatric weight management impacts anthrop..:

Morrison, Katherine M. ; Gunn, Elizabeth ; Schwindt, Stephanie..
Clinical Obesity. 13 (2023) 5 - p. , 2023

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