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1.
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care.
Am J Med Genet C Semin Med Genet
; 190(2): 162-168, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35932090
2.
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Hum Mutat
; 41(3): 632-640, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31696996
3.
Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.
Neuropediatrics
; 50(2): 96-102, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30665247
4.
Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy.
Int J Neonatal Screen
; 10(2)2024 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38651397
5.
Development and electronic health record validation of an algorithm for identifying patients with Duchenne muscular dystrophy in US administrative claims.
J Manag Care Spec Pharm
; 29(9): 1033-1044, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37610111
6.
Disease Progression Stages and Burden in Patients with Duchenne Muscular Dystrophy Using Administrative Claims Supplemented by Electronic Medical Records.
Adv Ther
; 39(6): 2906-2919, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35460510
7.
Moving Beyond the 2018 Minimum International Care Considerations for Osteoporosis Management in Duchenne Muscular Dystrophy (DMD): Meeting Report from the 3rd International Muscle-Bone Interactions Meeting 7th and 14th November 2022.
J Neuromuscul Dis
; 11(1): 233-252, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-37980681
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