E-LIB Suche - Ergebnisse für: Prada, Carlos E

1

Homozygosity for disease‐causing variants in AMT and GLDC i..:

Drackley, Andy ; Peter, Merlene ; Rathbun, Pamela...
American Journal of Medical Genetics Part A. , 2024

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

2

Aminotransferase trends in propionic acidemia:

Silva, Maria P. ; Raski, Carolyn R. ; Charrow, Joel..
American Journal of Medical Genetics Part A. , 2024

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

3

Role of CAMK2D in neurodevelopment and associated condition:

Rigter, Pomme M.F. ; de Konink, Charlotte ; Dunn, Matthew J....
The American Journal of Human Genetics. 111 (2024) 2 - p. 364-382 , 2024

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

4

Characteristics and management of US pediatric patients wit..:

Goker-Alpan, Ozlem ; Burrow, Andrew ; Enns, Gregory M....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107854 , 2024

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

5

Dandy–Walker malformation in an individual with ABL1 varian:

Garzon, Jenny P. ; Pardo, Andrea C. ; Raski, Carolyn R..
American Journal of Medical Genetics Part A. , 2024

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

6

Hips don't lie: Utility of imaging in individuals with Gauc..:

Prada, Carlos E. ; Rasmussen, Carly ; Quadri, Allegra M..
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108003 , 2024

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

7

Case report: Childhood erythrocytosis due to hypermanganese..:

Coppola, Tiziana ; Hughes, Hannah ; Finch, Paul T....
Frontiers in Hematology. 3 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

8

Treatment-naive and post-treatment glucosylsphingosine (lys..:

Rasmussen, Carly A. ; Quadri, Allegra ; Vucko, Erika...
Molecular Genetics and Metabolism. 141 (2024) 1 - p. 107736 , 2024

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

9

Motor Function and Physiology in Youth With Neurofibromatos..:

Doherty, Alexander C. ; Huddleston, David A. ; Horn, Paul S....
Pediatric Neurology. 143 (2023) - p. 34-43 , 2023

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

10

Prenatal and infantile diagnosis of craniosynostosis in ind..:

Serbinski, Carolyn R. ; Vanderwal, April ; Chadwell, Sarah E....
American Journal of Medical Genetics Part A. 194 (2023) 2 - p. 195-202 , 2023

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

11

Early allograft dysfunction in a pediatric liver allograft ..:

Rezvani, Milad ; Campbell, Kathleen M. ; Prada, Carlos E..
American Journal of Transplantation. 23 (2023) 5 - p. 673-675 , 2023

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

12

The 8th International RASopathies Symposium: Expanding rese..:

Pierpont, Elizabeth I. ; Bennett, Anton M. ; Schoyer, Lisa...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

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

13

Newborn screening for acid sphingomyelinase deficiency in I..:

Hickey, Rachel E. ; Baker, Joshua ; Prada, Carlos E..
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107148 , 2023

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

14

Clustered variants in the 5′ coding region of TRA2B cause a..:

Ramond, Francis ; Dalgliesh, Caroline ; Grimmel, Mona...
Genetics in Medicine. 25 (2023) 4 - p. 100003 , 2023

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

15

Outcomes and Associated Extracardiac Malformations in Neona..:

Alvarado, Jorge L. ; Bermon, Anderson ; Florez, Claudia...
Pediatric Cardiology. , 2023

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