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316 results

  1. Excluded Studies - Medical Therapies for Children With Autism Spectrum Disorder—An Update - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK448263
    ... et al. Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations. Dev ...
  2. Defining Patient Registries and Research Networks - Engaging Patients in Information Sharing and Data Collection - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK164514
    ... Patrick and Christopher, who were both diagnosed with Duchenne muscular dystrophy when little was known about the condition. Refusing ...
  3. Ornithine Transcarbamylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154378
    ... with significant morbidity: retinitis pigmentosa , McLeod neuroacanthocytosis syndrome , Duchenne muscular dystrophy , and oculo-facio-cardio-dental syndrome (OMIM 300166 ) [ ...
  4. Glycogen Storage Disease Type IV - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK115333
    ... from childhood neuromuscular subtype of GSD IV DMD Duchenne muscular dystrophy XL Dilated cardiomyopathy Myopathy Calf pseudohypertrophy Abnormal dystrophin ...
  5. Salih Myopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK83297
    ... w/Salih myopathy Distinguishing from Salih myopathy DMD Duchenne muscular dystrophy (See Dystrophinopathies .) XL Usually manifests in early childhood ...
  6. Spinal Muscular Atrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1352
    ... syndrome NA Muscle weakness Subacute onset, sensory involvement Duchenne muscular dystrophy DMD XL Muscle weakness, motor regression Serum creatine ...
  7. Brugada Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1517
    ... and autonomic nervous system abnormalities Heterocyclic antidepressant overdose Duchenne muscular dystrophy Friedreich ataxia Thiamine deficiency Hypercalcemia Hyperkalemia Cocaine intoxication ...
  8. Carnitine Palmitoyltransferase II Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1253
    ... arrhythmias Malignant hyperthermia (See Malignant Hyperthermia Susceptibility .) Dystrophinopathies (Duchenne muscular dystrophy, Becker muscular dystrophy) Myoadenylate deaminase deficiency (MAD) (OMIM ...
  9. Von Hippel-Lindau Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1463
    ... to promote read-through of nonsense variants in Duchenne muscular dystrophy (DMD), cystic fibrosis (CF), and Usher syndrome type ...
  10. pdf2005CJ.pdf 
    https://www.nlm.nih.gov/about/2005CJ.pdf
    ... linked genes including those involved in retinoblastoma, neurofibromatosis, Duchenne muscular dystrophy, hemophilia, and nephrogenic diabetes insipidus. The study contributes ...
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