More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated
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 (01.06.2013)
Published in Molecular syndromology (01.06.2013)
Get full text
Journal Article
Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome
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
Published in Clinical and experimental immunology (01.07.2008)
Published in Clinical and experimental immunology (01.07.2008)
Get full text
Journal Article
Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2)
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 (01.09.2012)
Published in Hearing research (01.09.2012)
Get full text
Journal Article
Audiometric Characteristics of a Dutch Family with a New Mutation in GATA3 Causing HDR Syndrome
van Beelen, E., Leijendeckers, J.M., Admiraal, R.J.C., Huygen, P.L.M., Hoefsloot, L.H., Pennings, R.J.E., Snik, A.F.M., Kunst, H.P.M.
Published in Audiology & neurotology (01.01.2014)
Published in Audiology & neurotology (01.01.2014)
Get full text
Journal Article
Identification of a Nonsense Mutation in the Granulocyte-Colony-Stimulating Factor Receptor in Severe Congenital Neutropenia
Dong, Fan, Hoefsloot, Lies H., Schelen, Anita M., Lianne C. A. M. Broeders, Meijer, Yolande, Anjo J. P. Veerman, Touw, Ivo P., Lowenberg, Bob
Published in Proceedings of the National Academy of Sciences - PNAS (10.05.1994)
Published in Proceedings of the National Academy of Sciences - PNAS (10.05.1994)
Get full text
Journal Article
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum
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.
Published in American journal of medical genetics. Part A (15.06.2006)
Published in American journal of medical genetics. Part A (15.06.2006)
Get full text
Journal Article
An XbaI restriction site polymorphism in the acid alpha-glucosidase gene (GAA)
Hoefsloot, L H, Hoogeveen-Westerveld, M, Oostra, B A, Reuser, A J
Published in Nucleic acids research (11.02.1991)
Published in Nucleic acids research (11.02.1991)
Get full text
Journal Article
HindIII/EcoRI polymorphism in the GAA gene
Hoefsloot, L H, Hoogeveen-Westerveld, M, Sakuraba, H, Suzuki, Y, Oostra, B A, Reuser, A J
Published in Nucleic acids research (11.10.1990)
Published in Nucleic acids research (11.10.1990)
Get full text
Journal Article