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X
Prada, Carlos E
1220  Ergebnisse:
Personensuche X
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1

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/..
 
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2

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/..
 
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3

Aminotransferase trends in propionic acidemia:

Silva, Maria P. ; Raski, Carolyn R. ; Charrow, Joel..
American Journal of Medical Genetics Part A.  194 (2024)  9 - p. , 2024
Link: https://doi.org/10.1002/..
 
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4

Complete Blood Count Values Over Time in Young Children Dur..:

Day, Melissa E. ; Puello, Yonairy Collado ; Mejía Sang, Miguel E....
BioMed Research International.  2024 (2024)  1 - p. , 2024
Link: https://doi.org/10.1155/..
 
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5

Presentation of ichthyosis after substrate reduction therap..:

Herbster, Jack ; Prada, Carlos E. ; Rasmussen, Carly A....
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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6

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

Drackley, Andy ; Peter, Merlene ; Rathbun, Pamela...
American Journal of Medical Genetics Part A.  194 (2024)  8 - p. , 2024
Link: https://doi.org/10.1002/..
 
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7

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/..
 
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8

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/..
 
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9

Expanding the phenotype of neurofibromatosis type 1 microde..:

Garzon, Jenny P. ; Patete, Andrea ; Aschbacher‐Smith, Lindsey...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  , 2024
Link: https://doi.org/10.1002/..
 
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10

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/..
 
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11

Clinical and functional studies of MTOR variants in Smith-K..:

Liu, Andrew C. ; Shen, Yang ; Serbinski, Carolyn R....
Human Genetics and Genomics Advances.  5 (2024)  4 - p. 100333 , 2024
Link: https://doi.org/10.1016/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

Clinical and ocular abnormalities in DEGCAGS syndrome—Devel..:

Ali, Syed M. ; AlMasri, Dua A. ; Prada, Carlos E....
Molecular Genetics & Genomic Medicine.  12 (2023)  1 - p. , 2023
Link: https://doi.org/10.1002/..
 
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