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Prada, Carlos E.
954
results:
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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
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/..
?
3
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/..
?
4
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/..
?
5
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/..
?
6
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/..
?
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
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/..
?
9
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/..
?
10
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/..
?
11
Outcomes and Associated Extracardiac Malformations in Neona..:
Alvarado, Jorge L.
;
Bermon, Anderson
;
Florez, Claudia
...
Pediatric Cardiology. , 2023
Link:
https://doi.org/10.1007/..
?
12
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/..
?
13
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/..
?
14
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/..
?
15
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/..
1-15