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100 results

  1. Pachyonychia Congenita - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1280
    ... RD, Basel D. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review Familial Hypercholesterolemia. [GeneReviews(®). ...
  2. Spinal Muscular Atrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1352
    ... N, Blau N. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review Collagen VI-Related ...
  3. SHOX Deficiency Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1215
    ... SL, Knowles JW. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review Fanconi Anemia. [GeneReviews(®). ...
  4. Familial Cerebral Cavernous Malformations - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1293
    ... Links Similar articles in PubMed Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review PTS-Related Tetrahydrobiopterin ...
  5. Hereditary Neuropathy with Liability to Pressure Palsies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1392
    ... E, Crawford S. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review MFN2 Hereditary Motor ...
  6. Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1476
    ... V, Bönnemann CG. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review Emery-Dreifuss Muscular ...
  7. Primary Familial Brain Calcification - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1421
    ... SL, Knowles JW. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review Genetic Atypical Hemolytic- ...
  8. Nonsyndromic Malignant Hyperthermia Susceptibility - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1146
    ... Lehmann-Horn F. GeneReviews(®). 1993 Review FBN1-Related Marfan Syndrome. [GeneReviews(®). 1993] Review FBN1-Related Marfan Syndrome. Dietz H. GeneReviews(®). 1993 Review Familial Hypercholesterolemia. [GeneReviews(®). ...
  9. Excluded Studies - Management of Postpartum Hemorrhage - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK294466
    ... Curry R, Gelson E, Swan L, et al. Marfan syndrome and pregnancy: maternal and neonatal outcomes. BJOG. 2014 ... Curry RA, Gelson E, Swan L, et al. Marfan syndrome and pregnancy: maternal and neonatal outcomes. BJOG. 2014 ...
  10. CHD8-Related Neurodevelopmental Disorder with Overgrowth - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK585456
    ... study described an individual with features reminiscent of Marfan syndrome [ Yamada et al 2021 ]. Sleep disturbance. About 70% ... of CHD8 in a patient with forme-fruste Marfan syndrome and intellectual disability. Congenital Anomalies. 2021;61:30– ...
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