American Journal of Human Genetics 2006 Han G. Brunner - Abstracts

American Journal of Human Genetics 2006 Han G. Brunner
TitleSubjectAuthors
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.Biological sciencesJean-Pierre Fryns, Han G. Brunner, Ben C.J. Hamel, David Genevieve, Tjitske Kleefstra, Astrid R. Oudakker, Jeanne Amiel, Willy M. Nillesen, Alex Magee, Valerie Cormier-Daire, Hilde van Esch, Erik A. Sistermans, Bert B.A. de Vries
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.(centrosomal protein )Biological sciencesHan G. Brunner, Frans P.M. Cremers, Thomas Meitinger, Tim M. Strom, Anneke I. den Hollander, Robert K. Koenekoop, Suzanne Yzer, Irma Lopez, Maarten L. Arends, Krysta E.J. Voesenek, Marijke N. Zonneveid, Carel B. Hoyng, Ingeborgh van den Born, Klaus Rohrschneider
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.Biological sciencesRichard C. Trembath, Neil V. Morgan, Han G. Brunner, Jenny E.V. Morton, Louise A. Brueton, Phillip Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamas Marton, Lihadh Al-Gazali, Christine Oley, Colin A. Johnson, Eammon R. Maher
The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males.Biological sciencesHan G. Brunner, Andrew O.M. Wilkie, John B. Mulliken, Stephen R.F. Twigg, Kazuya Matsumoto, Alexa M.J. Kidd, Anne Goriely, Indira B. Taylor, Richard B. Fisher, A. Hoogeboom, Jeannette M., Irene M.J. Mathijssen, M. Teresa Lourenco, Jenny E.V. Morton, Elizabeth Sweeney, Louise C. Wilson, Steven A. Wall
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