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83 results
  1. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... et al 2015 , Lambacher et al 2016 ]. Differential Diagnosis Disorders in the differential diagnosis include the disorders discussed ... this GeneReview Summary Diagnosis Clinical Characteristics Genetically Related ... Counseling Resources Molecular Genetics Chapter Notes ...
  2. Childhood Non-Hodgkin Lymphoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65738
    ... cell and/or lymphohistiocytic components.[ 42 ] Sites of disease at diagnosis In pediatric NHL, some sites of disease appear ... of 70%. Patients with combined marrow and CNS disease at diagnosis had an EFS rate of only 61%. This ...
  3. Carnitine-Acylcarnitine Translocase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK582032
    ... to ↓ acetyl-CoA & therefore NAG (essential in the urea cycle). 11 High dietary carbohydrate intake appears necessary to ... GeneReview Summary Diagnosis Clinical Characteristics Genetically Related (Allelic) ... Counseling Resources Molecular Genetics Chapter Notes ...
  4. Chronic obstructive pulmonary disease in over 16s: diagnosis and management - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK542426
    ... Medicine, National Institutes of Health. Chronic obstructive pulmonary disease in over 16s: diagnosis and management NICE Guideline, No. 115 London: National ...
  5. Pulmonary monitoring, assessment and management - Cystic Fibrosis - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK535669
    ... people with cystic fibrosis without clinical signs or symptoms of lung disease One study ( Sanders 2015 ) was identified for this ... people with cystic fibrosis without clinical signs or symptoms of lung disease A summary of the studies that were included ...
  6. Mitochondrial DNA-Associated Leigh Syndrome Spectrum - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1173
    ... CM. Use of whole-genome sequencing for mitochondrial disease diagnosis. Neurology. 2022;99:e730-e742. [ PMC free article : ... this GeneReview Summary Diagnosis Clinical Characteristics Genetically Related ... Counseling Resources Molecular Genetics Chapter Notes ...
  7. Cystic Fibrosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1250
    ... CFTR -disseminated bronchiectasis [ Bombieri et al 2011 ]. Differential Diagnosis Genetic disorders of interest in the differential diagnosis of cystic ... GeneReview Summary Diagnosis Clinical Characteristics Genetically Related (Allelic) ... Counseling Resources Molecular Genetics Chapter Notes ...
  8. THOC6 Intellectual Disability Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK560442
    ... Gene(s) Disorder MOI Clinical Features of Differential Diagnosis Disorder Overlapping w/ THOC6 ID syndrome Distinguishing from THOC6 ... GeneReview Summary Diagnosis Clinical Characteristics Genetically Related (Allelic) ... Counseling Resources Molecular Genetics Chapter Notes ...
  9. Sickle Cell Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1377
    ... Society of Hematology 2020 guidelines for sickle cell disease: prevention, diagnosis, and treatment of cerebrovascular disease in children and ... Society of Hematology 2020 guidelines for sickle cell disease: prevention, diagnosis, and treatment of cerebrovascular disease in children and ...
  10. Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK583531
    ... GeneReview Scope Diagnosis Clinical Characteristics Genetically Related (Allelic) Disorders Differential Diagnosis Management Genetic Counseling Resources Molecular Genetics Chapter Notes ...
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