E-LIB Suche - Ergebnisse für: Graham, Brett H.

1

Survey of genetic counselors identifies a knowledge gap dis..:

Geiselman, Lily A. ; Wetherill, Leah ; Graham, Brett H...
Cytotherapy. 26 (2024) 1 - p. 88-95 , 2024

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

2

Solid organ transplantation in methylmalonic acidemia and p..:

Sen, Kuntal ; Burrage, Lindsay C. ; Chapman, Kimberly A....
Genetics in Medicine. 25 (2023) 2 - p. 100337 , 2023

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

3

Specifications of the ACMG/AMP guidelines for ACADVL varian..:

Flowers, May ; Dickson, Alexa ; Miller, Marcus J....
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107668 , 2023

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

4

Loss of succinyl-CoA synthetase in mouse forebrain results ..:

Lancaster, Makayla S. ; Kim, Byungwook ; Doud, Emma H....
Cell Reports. 42 (2023) 10 - p. 113241 , 2023

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

5

Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitoc..:

Lancaster, Makayla S. ; Graham, Brett H.
International Journal of Molecular Sciences. 24 (2023) 13 - p. 10725 , 2023

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

6

Mechanistic Investigation of GHS-R Mediated Glucose-Stimula..:

Pradhan, Geetali ; Lee, Jong Han ; Wu, Chia-Shan...
Biomolecules. 12 (2022) 3 - p. 407 , 2022

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

7

Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critic..:

Milosavljevic, Sofia ; Glinton, Kevin E. ; Li, Xiqi...
Metabolites. 12 (2022) 4 - p. 351 , 2022

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

8

Acute Hyperammonemia, Lactic Acidosis, and Ketoacidosis in ..:

Miller, Marcus J ; Luu, Sharon M ; Graham, Brett H
Clinical Chemistry. 67 (2021) 11 - p. 1572-1574 , 2021

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

9

MED27 Variants Cause Developmental Delay, Dystonia, and Cer..:

Meng, Linyan ; Isohanni, Pirjo ; Shao, Yunru...
Annals of Neurology. 89 (2021) 4 - p. 828-833 , 2021

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

10

An apparent new syndrome of extreme short stature, microcep..:

Stinson, Jennifer L. ; Brault, Jennifer A. ; Delk, Paula R....
American Journal of Medical Genetics Part A. 182 (2020) 7 - p. 1562-1571 , 2020

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

11

Impaired mitochondrial complex I function as a candidate dr..:

Emmerzaal, Tim L. ; Preston, Graeme ; Geenen, Bram...
Translational Psychiatry. 10 (2020) 1 - p. , 2020

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

12

Association between pre-diagnostic leukocyte mitochondrial ..:

Yang, Keming ; Forman, Michele R. ; Graham, Brett H....
Cancer Epidemiology. 68 (2020) - p. 101778 , 2020

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

13

Insulinemic Potential of Lifestyle Is Inversely Associated ..:

Yang, Keming ; Forman, Michele R ; Monahan, Patrick O...
The Journal of Nutrition. 150 (2020) 8 - p. 2156-2163 , 2020

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

14

An unusual cause for Coffin–Lowry syndrome: Three brothers ..:

Castelluccio, Valerie J. ; Vetrini, Francesco ; Lynnes, Ty...
American Journal of Medical Genetics Part A. 179 (2019) 12 - p. 2357-2364 , 2019

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

15

Biallelic variants in COX4I1 associated with a novel phenot..:

Pillai, Nishitha R. ; AlDhaheri, Noura S. ; Ghosh, Rajarshi...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2138-2143 , 2019

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