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9 results
  1. GRIN2D-Related Developmental and Epileptic Encephalopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK582335
    ... MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Successful application of ...
  2. Wiedemann-Steiner Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK580718
    ... article : PMC5473876 ] [ PubMed : 28623346 ] Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz ...
  3. Spastic Paraplegia 15 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK570772
    ... S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, ...
  4. Mandibulofacial Dysostosis with Microcephaly - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK214367
    ... Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix ...
  5. Hypochondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1477
    ... Bengur FB, Ekmekci CG, Karaarslan E, Gunoz H, Alanay Y. p. Ser348Cys mutation in FGFR3 gene leads ... Souberbielle JC, Pineau JC, Polak M. Efficacy and safety of growth hormone in the treatment of children ...