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30 results
  1. STAC3 Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK542808
    ... obligatory. Variably present: Cranial nerve abnormalities Hearing ... = developmental delay; DiffDx = differential diagnosis; MH = malignant hyperthermia; MOI = mode of inheritance; XL = ...
  2. Poland syndrome 
    https://medlineplus.gov/genetics/condition/poland-syndrome
    ... disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... inheritance-pattern></inheritance-pattern-list><synonym-list ><synonym >Poland anomaly</synonym><synonym >Poland sequence</synonym><synonym >Poland syndactyly</ ...
  4. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... title >Poland syndrome</title><other_names ><other_name >Poland anomaly</other_name><other_name >Poland sequence</other_name><other_name >Poland syndactyly</other_name><other_name >Poland's anomaly</other_name><other_name >Poland's syndrome</other_name>< ...
  5. Genetic Disorders 
    https://medlineplus.gov/geneticdisorders.html
    ... Progeria (Progeria Research Foundation, Inc.) - PDF Specifics About Poland Anomaly (National Human Genome Research Institute) About Progeria (National ... for Medical Education and Research) Triple X Syndrome: Symptoms and Causes (Mayo Foundation for Medical Education and ...
  6. List of Excluded Studies - Diagnosis of Celiac Disease - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344449
    ... US); 2016 Jan. (Comparative Effectiveness Reviews, No. 162.) Diagnosis of Celiac Disease [Internet]. Show details Comparative Effectiveness ... PubMed : 24857202 ] 19. Bode S, Gudmand-Hoyer E. Symptoms and haematologic features in consecutive adult coeliac patients. ...
  7. Results - Management of Primary Headaches in Pregnancy - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK564862
    ... Triptans All participants NR Spielmann, 2018, NRCS, 28758416 Poland syndrome At birth Triptans: Any All participants 1/367 ( ... 46, 2.19) Intervention worse Neonatal Neonatal withdrawal symptoms 1 OR 3.1 (1.3, 7.1) ...
  8. Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK583531
    ... Long-term complications include peripheral neuropathy and retinopathy. Diagnosis/testing. The diagnosis of LCHAD/TFP deficiency is ... TFPD) Mitochondrial trifunctional protein (MTP) deficiency HADHA HADHB Diagnosis No consensus clinical diagnostic criteria for long-chain ...
  9. CSF1R-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK100239
    ... CSF1R -related disorder have been reported to date. Diagnosis/testing. The diagnosis of CSF1R -related disorder is ... heterozygous pathogenic variant in AARS1 (see Differential Diagnosis ). Diagnosis Suggestive Findings CSF1R -related disorder should be suspected ...
  10. WT1 Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK556455
    ... phenotypic continuum and are no longer clinically helpful. Diagnosis/testing. The diagnosis of a WT1 disorder is ... increased risk and preimplantation genetic testing are possible. Diagnosis Formal diagnostic criteria for WT1 disorder have not ...
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