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40 results

  1. Alström Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1267
    ... Alström syndrome National Library of Medicine Genetics Home Reference Alstrom syndrome Ciliopathy Alliance United Kingdom ciliopathyalliance.org EURO-WABB ...
  2. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Acadian ... 
    https://www.ncbi.nlm.nih.gov/books/NBK580717
    ... 1 Carrier Frequency Ethnicity (Specific Region) Reference Sequences References ALMS1 Alström syndrome AR c.10535_10536ins19 p.Lys3512AsnfsTer18 ~100% 2 ...
  3. Genetic Disorders 
    https://medlineplus.gov/geneticdisorders.html
    A mutation in a person's genes can cause a medical condition called a genetic disorder. Learn about the types and how they are detected. ... What are genetic ...
  4. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Mennonite ... 
    https://www.ncbi.nlm.nih.gov/books/NBK592267
    ... Frequency Ethnicity (Specific Region or Conference) Reference Sequences Reference(s) 3 ACADM ... ALMS1 Alström syndrome AR c.10480C>T p.Gln3494Ter ~100% 5 ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/alstrom-syndrome</url><title >Alström syndrome</title><other_names ><other_name >ALMS</other_name>< ...
  6. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... Sensory and Motor Neuropathy C10.500.300.099 Alstrom Syndrome C10.500.300.200 Charcot-Marie-Tooth Disease ... and Motor Neuropathy C10.574.500.495.099 Alstrom Syndrome C10.574.500.495.200 Charcot-Marie-Tooth ...
  7. Bardet-Biedl Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1363
    ... Disorder Overlapping w/BBS Distinguishing from BBS ALMS1 Alström syndrome (AS) AR Cone-rod dystrophy (presents earlier in ... congenital hepatic fibrosis, and Joubert, Bardet-Biedl, and Alström syndromes. Dr Gunay-Aygun's website Author History Philip ...
  8. Werner Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1514
    ... K, Cunniff CM, Kucine N. GeneReviews(®). 1993 Review Alström Syndrome. [GeneReviews(®). 1993] Review Alström Syndrome. Paisey RB, Steeds R, Barrett T, Williams D, ...
  9. Woodhouse-Sakati Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK378974
    ... 11):2237-2240. Epub 2019 Jul 26. Review Alström Syndrome. [GeneReviews(®). 1993] Review Alström Syndrome. Paisey RB, Steeds R, Barrett T, Williams D, ...
  10. TFR2-Related Hemochromatosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1349
    ... Spherocytosis. Kalfa TA, Begtrup AH. GeneReviews(®). 1993 Review Alström Syndrome. [GeneReviews(®). 1993] Review Alström Syndrome. Paisey RB, Steeds R, Barrett T, Williams D, ...
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