Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

nork Dam, Anika H. D. M. , Koscinski, Isabelle , Kremer, Jan A. M. , Moutou, Céline , Jaeger, Anne-Sophie , Oudakker, Astrid R. , Tournaye, Herman , Charlet, Nicolas , Lagier-Tourenne, Clotilde , van Bokhoven, Hans , Viville, Stéphane 
Argitaratua 2007

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

nork Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C. J., Sistermans, Erik A., de Vries, Bert B. A., van Bokhoven, Hans
Argitaratua 2006

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

nork de Brouwer, Arjan PM, Nabuurs, Sander B, Verhaart, Ingrid EC, Oudakker, Astrid R, Hordijk, Roel, Yntema, Helger G, Hordijk-Hos, Jannet M, Voesenek, Krysta, de Vries, Bert BA, van Essen, Ton, Chen, Wei, Hu, Hao, Chelly, Jamel, den Dunnen, Johan T, Kalscheuer, Vera M, Aartsma-Rus, Annemieke M, Hamel, Ben CJ, van Bokhoven, Hans, Kleefstra, Tjitske
Argitaratua 2014

ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

nork Lugtenberg, Dorien, Yntema, Helger G., Banning, Martijn J. G., Oudakker, Astrid R., Firth, Helen V., Willatt, Lionel, Raynaud, Martine, Kleefstra, Tjitske, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, Gécz, Jozef, Reeuwijk, Jeroen van, Nabuurs, Sander B., de Vries, Bert B. A., Hamel, Ben C. J., de Brouwer, Arjan P. M., Bokhoven, Hans van
Argitaratua 2006

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

nork Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, Raynaud, Martine, Rating, Dietz, Journel, Hubert, Chelly, Jamel, Goizet, Cyril, Lacombe, Didier, Pedespan, Jean-Michel, Echenne, Bernard, Tariverdian, Gholamali, O'Rourke, Declan, King, Mary D, Green, Andrew, van Kogelenberg, Margriet, Van Esch, Hilde, Gecz, Jozef, Hamel, Ben CJ, van Bokhoven, Hans, de Brouwer, Arjan PM
Argitaratua 2009

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

nork Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, Raynaud, Martine, Rating, Dietz, Journel, Hubert, Chelly, Jamel, Goizet, Cyril, Lacombe, Didier, Pedespan, Jean-Michel, Echenne, Bernard, Tariverdian, Gholamali, O'Rourke, Declan, King, Mary D, Green, Andrew, van Kogelenberg, Margriet, Van Esch, Hilde, Gecz, Jozef, Hamel, Ben C J, van Bokhoven, Hans, de Brouwer, Arjan P M
Argitaratua 2009