E-LIB Suche - Ergebnisse für: Phillips III, John A.

1

Clustered de novo start-loss variants in GLUL result in a d..:

Jones, Amy G. ; Aquilino, Matilde ; Tinker, Rory J....
The American Journal of Human Genetics. 111 (2024) 4 - p. 729-741 , 2024

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

2

P144: Persistence of growth-promoting effects in children w..:

Hoover-Fong, Julie ; Irving, Melita ; Bacino, Carlos...
Genetics in Medicine Open. 2 (2024) - p. 101041 , 2024

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

3

De novo variants in DENND5B cause a neurodevelopmental diso..:

Scala, Marcello ; Tomati, Valeria ; Ferla, Matteo...
The American Journal of Human Genetics. 111 (2024) 3 - p. 529-543 , 2024

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

4

Undiagnosed Disease Network collaborative approach in diagn..:

Ezell, Kimberly M. ; Tinker, Rory J. ; Furuta, Yutaka...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

5

Heterozygous ZNHIT3 variants within the 17q12 recurrent del..:

Brakta, Soumia ; Du, Quansheng ; Chorich, Lynn P....
Molecular and Cellular Endocrinology. 589 (2024) - p. 112237 , 2024

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

6

Data from electronic healthcare records expand our understa..:

Tinker, Rory J. ; Bastarache, Lisa ; Ezell, Kimberly...
American Journal of Medical Genetics Part A. 194 (2024) 5 - p. , 2024

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

7

P131: Persistence of growth-promoting effects in infants an..:

Savarirayan, Ravi ; Wilcox, William ; Harmatz, Paul...
Genetics in Medicine Open. 2 (2024) - p. 101028 , 2024

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

8

A Case Study of Dysfunctional Nicotinamide Metabolism in a ..:

DeBalsi, Karen L. ; Newman, John H. ; Sommerville, Laura J....
Metabolites. 13 (2023) 3 - p. 399 , 2023

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

9

THU181 Evaluation Of Bone Mineral Density In A Cohort Of Ch..:

Savarirayan, Ravi ; De Bergua, Josep Maria ; Arundel, Paul...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1210/..

10

Rare structural variants, aneuploidies, and mosaicism in in..:

Brakta, Soumia ; Hawkins, Zoe A. ; Sahajpal, Nikhil...
Human Genetics. 142 (2023) 4 - p. 483-494 , 2023

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

11

A medical odyssey of a 72‐year‐old man with Charcot–Marie–T..:

Furuta, Yutaka ; Nelson, Erica T. ; Neumann, Serena M....
American Journal of Medical Genetics Part A. 191 (2023) 12 - p. 2873-2877 , 2023

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

12

Probable digenic inheritance of Diamond–Blackfan anemia:

Furuta, Yutaka ; Tinker, Rory J ; Gulsevin, Alican...
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

13

The contribution of mosaicism to genetic diseases and de no..:

Tinker, Rory J. ; Bastarache, Lisa ; Ezell, Kimberly...
American Journal of Medical Genetics Part A. 191 (2023) 10 - p. 2482-2492 , 2023

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

14

Efficacy and safety of a synthetic biotic for treatment of ..:

Vockley, Jerry ; Sondheimer, Neal ; Puurunen, Marja...
Nature Metabolism. 5 (2023) 10 - p. 1685-1690 , 2023

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

15

Infigratinib in children with achondroplasia: the PROPEL an..:

Savarirayan, Ravi ; De Bergua, Josep Maria ; Arundel, Paul...
Therapeutic Advances in Musculoskeletal Disease. 14 (2022) - p. 1759720X2210848 , 2022

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