American Journal of Human Genetics 2006 Han G. Brunner - Abstracts
American Journal of Human Genetics 2006 Han G. Brunner | |||||
Title | Subject | Authors | |||
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Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. | Biological sciences | Jean-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 sciences | Han 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 sciences | Richard 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 sciences | Han 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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