Search Results - Hoefsloot, L.H

  • Showing 1 - 7 results of 7
Refine Results
  1. 1
    More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

    More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated by Corsten-Janssen, N., Saitta, S.C., Hoefsloot, L.H., McDonald-McGinn, D.M., Driscoll, D.A., Derks, R., Dickinson, K.A., Kerstjens-Frederikse, W.S., Emanuel, B.S., Zackai, E.H., van Ravenswaaij-Arts, C.M.A.

    Published in Molecular syndromology
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  2. 2
    Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

    Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome by Gennery, A.R, Slatter, M.A, Rice, J, Hoefsloot, L.H, Barge, D, McLean-Tooke, A, Montgomery, T, Goodship, J.A, Burt, A.D, Flood, T.J, Abinun, M, Cant, A.J, Johnson, D

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  3. 3
    Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2)

    Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2) by van Beelen, E., Leijendeckers, J.M., Huygen, P.L.M., Admiraal, R.J.C., Hoefsloot, L.H., Lichtenbelt, K.D., Stöbe, L., Pennings, R.J.E., Leuwer, R., Snik, A.F.M., Kunst, H.P.M.

    Published in Hearing research
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  4. 4
    Identification of a Nonsense Mutation in the Granulocyte-Colony-Stimulating Factor Receptor in Severe Congenital Neutropenia

    Identification of a Nonsense Mutation in the Granulocyte-Colony-Stimulating Factor Receptor in Severe Congenital Neutropenia by Dong, Fan, Hoefsloot, Lies H., Schelen, Anita M., Lianne C. A. M. Broeders, Meijer, Yolande, Anjo J. P. Veerman, Touw, Ivo P., Lowenberg, Bob

    Get full text
    Items that cite this one
    Article
    Save to List
    Saved in:
  5. 5
    Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum

    Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum by Spruijt, L., Hoefsloot, L.H., van Schaijk, G.H.W.H., van Waardenburg, D., Kremer, B., Brackel, H.J.L., de Die-Smulders, C.E.M.

    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  6. 6
    An XbaI restriction site polymorphism in the acid alpha-glucosidase gene (GAA)

    An XbaI restriction site polymorphism in the acid alpha-glucosidase gene (GAA) by Hoefsloot, L H, Hoogeveen-Westerveld, M, Oostra, B A, Reuser, A J

    Published in Nucleic acids research
    Get full text
    Article
    Save to List
    Saved in:
  7. 7
    HindIII/EcoRI polymorphism in the GAA gene

    HindIII/EcoRI polymorphism in the GAA gene by Hoefsloot, L H, Hoogeveen-Westerveld, M, Sakuraba, H, Suzuki, Y, Oostra, B A, Reuser, A J

    Published in Nucleic acids research
    Get full text
    Items that cite this one
    Article
    Save to List
    Saved in:

Search Tools: