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31 results
  1. Birth Defects 
    https://medlineplus.gov/birthdefects.html
    ... you get pregnant Centers for Disease Control and Prevention
  2. Joubert Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1325
    ... JS, suggesting an association with the ciliary disorder Bardet-Biedl syndrome ; the identification of biallelic pathogenic variants in INPP5E ... syndrome; NPHP = nephronophthisis; LCA = Leber congenital amaurosis; BBS = ... MORM = mental retardation, truncal obesity, retinal dystrophy, micropenis [ ...
  3. Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368475
    ... can be indicative of a syndrome (e.g., Bardet-Biedl syndrome and Joubert syndrome). With time, some individuals who ... see Table 2 in Joubert Syndrome, Clinical Characteristics ). Bardet-Biedl syndrome (BBS) is a multisystem ciliopathy primarily characterized by ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Bardet-Biedl syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  5. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... Dandy-Walker Syndrome Hydrocephalus, Normal Pressure Hypothalamic Diseases Bardet-Biedl Syndrome Hypothalamic Neoplasms Pallister-Hall Syndrome 361 Jul 15, ...
  6. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 617 Hypothalamic Diseases C10.228.140.617.200 Bardet-Biedl Syndrome C10.228.140.617.477 Hypothalamic Neoplasms C10. ... 684.249 Alstrom Syndrome C11.270.684.624 Bardet-Biedl Syndrome C11.270.862 Retinoblastoma C11.270.881 Walker- ...
  7. Alström Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1267
    ... should prompt evaluation for alternative diagnosis such as Bardet-Biedl syndrome (see Table 4 ). Table 4. Disorders to Consider ... w/Alström syndrome Distinguishing from Alström syndrome (AS) Bardet-Biedl syndrome (BBS) >21 genes 1 AR 2 Rod-cone ...
  8. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... 617...........................................Hypothalamic Diseases C10.228.140.617.200...........................................Bardet-Biedl Syndrome C10.228.140.617.477...........................................Hypothalamic Neoplasms C10. ...
  9. Excluded Studies - Interventions Targeting Sensory Challenges in Children With Autism Spectrum Disorder—An Update - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK448045
    ... adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. Clin Genet. 2015 May 19 doi: 10.1111/ ... Qin S, et al. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet. 2016 Mar 22 doi: ...
  10. Excluded Studies - Medical Therapies for Children With Autism Spectrum Disorder—An Update - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK448263
    ... adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. Clin Genet. 2015 May 19doi: 10.1111/cge. ... Qin S, et al. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet. 2016 Mar 22doi: 10. ...
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