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Sakonju, Ai
38  results:
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1

P241: Expanding the phenotype of DREAM-PL: A case report:

Mahoney, Daniel ; Black, Jennifer ; Dosa, Nienke..
Genetics in Medicine Open.  1 (2023)  1 - p. 100269 , 2023
Link: https://doi.org/10.1016/..
 
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2

Neurogenetics: Congenital Myotonic Dystrophy with asymptoma..:

Appiah, Felix ; Shergelashvili, Téa ; Marr, Bonnie...
Neurology.  100 (2023)  17_supplement_2 - p. , 2023
Link: https://doi.org/10.1212/..
 
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3

Newborn Screening for Spinal Muscular Atrophy in New York S..:

Lee, Bo Hoon ; Deng, Stella ; Chiriboga, Claudia A....
Neurology.  99 (2022)  14 - p. , 2022
Link: https://doi.org/10.1212/..
 
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4

eP184: Novel KCNA1 pathogenic variant associated syndrome o..:

Major, Lauren ; Lebel, Robert Roger ; Rothman, Steven.
Genetics in Medicine.  24 (2022)  3 - p. S114 , 2022
Link: https://doi.org/10.1016/..
 
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5

Role of Electroencephalogram (EEG) and Magnetic Resonance I..:

Ho, Mai-Lan ; Wirrell, Elaine C. ; Petropoulou, Kalliopi...
Journal of Child Neurology.  37 (2022)  12-14 - p. 984-991 , 2022
Link: https://doi.org/10.1177/..
 
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6

Novel KCNA1 Variant Associated Syndrome of Episodic Dystoni..:

Major, Lauren ; Lebel, Robert ; Rothman, Steven.
Neurology.  98 (2022)  18_supplement - p. , 2022
Link: https://doi.org/10.1212/..
 
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7

In-frame deletion in SPOP leads to Nabais Sa-de Vries syndr..:

Ramos, Leona ; Byler, Melissa ; Gupta, Shiphali...
Molecular Genetics and Metabolism.  132 (2021)  - p. S73 , 2021
Link: https://doi.org/10.1016/..
 
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8

Expanding the myopathic spectrum of dominant RYR1 mutations..:

Coyne, Liam ; El-Dokla, Ahmed ; Pellegrino, Joan..
Molecular Genetics and Metabolism.  132 (2021)  - p. S162-S163 , 2021
Link: https://doi.org/10.1016/..
 
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9

Pediatric fibrocartilaginous spine embolism induced by trau..:

Raventhiranathan, Neveada ; Petropoulou, Kalliopi ; Sakonju, Ai..
Radiology Case Reports.  16 (2021)  8 - p. 1951-1955 , 2021
Link: https://doi.org/10.1016/..
 
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10

The critical role of psychosine in screening, diagnosis, an..:

Guenzel, Adam J. ; Turgeon, Coleman T. ; Nickander, Kim K....
Genetics in Medicine.  22 (2020)  6 - p. 1108-1118 , 2020
Link: https://doi.org/10.1038/..
 
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11

Implementation of population-based newborn screening reveal..:

Kay, Denise M. ; Stevens, Colleen F. ; Parker, April...
Genetics in Medicine.  22 (2020)  8 - p. 1296-1302 , 2020
Link: https://doi.org/10.1038/..
 
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12

Central and peripheral dysmyelination in a 3‐year‐old girl ..:

Lammert, Dawn Brianna ; Miedema, David ; Ochotorena, Josiree...
Clinical Case Reports.  7 (2019)  11 - p. 2087-2091 , 2019
Link: https://doi.org/10.1002/..
 
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13

Recruitment & retention program for the NeuroNEXT SMA Bioma..:

Bartlett, Amy ; Kolb, Stephen J. ; Kingsley, Allison...
Contemporary Clinical Trials Communications.  11 (2018)  - p. 113-119 , 2018
Link: https://doi.org/10.1016/..
 
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14

Psychosine: A useful biomarker for newborn screening, follo..:

Turgeon, Coleman ; White, Amy ; Peck, Dawn...
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S142 , 2018
Link: https://doi.org/10.1016/..
 
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15

Natural history of infantile‐onset spinal muscular atrophy:

Kolb, Stephen J. ; Coffey, Christopher S. ; Yankey, Jon W....
Annals of Neurology.  82 (2017)  6 - p. 883-891 , 2017
Link: https://doi.org/10.1002/..
 
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