An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

  1. Choufani, S.
  2. McNiven, V.
  3. Cytrynbaum, C.
  4. Jangjoo, M.
  5. Adam, M.P.
  6. Bjornsson, H.T.
  7. Harris, J.
  8. Dyment, D.A.
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  14. Devriendt, K.
  15. Stewart, H.
  16. Banos-Pinero, B.
  17. Mehta, S.
  18. Sandford, R.
  19. Dunn, C.
  20. Mathevet, R.
  21. van Maldergem, L.
  22. Piard, J.
  23. Brischoux-Boucher, E.
  24. Vitobello, A.
  25. Faivre, L.
  26. Bournez, M.
  27. Tran-Mau, F.
  28. Maystadt, I.
  29. Fernández-Jaén, A.
  30. Alvarez, S.
  31. García-Prieto, I.D.
  32. Alkuraya, F.S.
  33. Alsaif, H.S.
  34. Rahbeeni, Z.
  35. El-Akouri, K.
  36. Al-Mureikhi, M.
  37. Spillmann, R.C.
  38. Shashi, V.
  39. Sanchez-Lara, P.A.
  40. Graham, J.M.
  41. Roberts, A.
  42. Chorin, O.
  43. Evrony, G.D.
  44. Kraatari-Tiri, M.
  45. Dudding-Byth, T.
  46. Richardson, A.
  47. Hunt, D.
  48. Hamilton, L.
  49. Dyack, S.
  50. Mendelsohn, B.A.
  51. Rodríguez, N.
  52. Sánchez-Martínez, R.
  53. Tenorio-Castaño, J.
  54. Nevado, J.
  55. Lapunzina, P.
  56. Tirado, P.
  57. Carminho Amaro Rodrigues, M.-T.
  58. Quteineh, L.
  59. Innes, A.M.
  60. Kline, A.D.
  61. Au, P.Y.B.
  62. Weksberg, R.
  63. Erakutsi egile guztiak +
Aldizkaria:
American Journal of Human Genetics

ISSN: 1537-6605,  0002-9297

Argitalpen urtea: 2022

Alea: 109

Zenbakia: 10

Orrialdeak: 1867-1884

Mota: Artikulua

DOI: 10.1016/J.AJHG.2022.08.014 GOOGLE SCHOLAR lock_openSarbide irekia editor
Datuen iturria: Scopus