Showing 1–13 of 13 results
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Amendments and Corrections |
Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
- Dorien Lugtenberg
- , Tjitske Kleefstra
- , Astrid R Oudakker
- , Willy M Nillesen
- , Helger G Yntema
- , Andreas Tzschach
- , Martine Raynaud
- , Dietz Rating
- , Hubert Journel
- , Jamel Chelly
- , Cyril Goizet
- , Didier Lacombe
- , Jean-Michel Pedespan
- , Bernard Echenne
- , Gholamali Tariverdian
- , Declan O'Rourke
- , Mary D King
- , Andrew Green
- , Margriet van Kogelenberg
- , Hilde Van Esch
- , Jozef Gecz
- , Ben CJ Hamel
- , Hans van Bokhoven
- & Arjan PM de Brouwer
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Research |
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
- Lisenka ELM Vissers
- , Monica Bonetti
- , Jeroen Paardekooper Overman
- , Willy M Nillesen
- , Suzanna G M Frints
- , Joep de Ligt
- , Giuseppe Zampino
- , Ana Justino
- , José C Machado
- , Marga Schepens
- , Han G Brunner
- , Joris A Veltman
- , Hans Scheffer
- , Piet Gros
- , José L Costa
- , Marco Tartaglia
- , Ineke van der Burgt
- , Helger G Yntema
- & Jeroen den Hertog
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Research |
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Research | | Open
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Research |
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
- Dorien Lugtenberg
- , Tjitske Kleefstra
- , Astrid R Oudakker
- , Willy M Nillesen
- , Helger G Yntema
- , Andreas Tzschach
- , Martine Raynaud
- , Dietz Rating
- , Hubert Journel
- , Jamel Chelly
- , Cyril Goizet
- , Didier Lacombe
- , Jean-Michel Pedespan
- , Bernard Echenne
- , Gholamali Tariverdian
- , Declan O'Rourke
- , Mary D King
- , Andrew Green
- , Margriet van Kogelenberg
- , Hilde Van Esch
- , Jozef Gecz
- , Ben C J Hamel
- , Hans van Bokhoven
- & Arjan P M de Brouwer
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Research |
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Research |
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
- David A Koolen
- , Jamie M Kramer
- , Kornelia Neveling
- , Willy M Nillesen
- , Heather L Moore-Barton
- , Frances V Elmslie
- , Annick Toutain
- , Jeanne Amiel
- , Valérie Malan
- , Anne Chun-Hui Tsai
- , Sau Wai Cheung
- , Christian Gilissen
- , Eugene T P Verwiel
- , Sarah Martens
- , Ton Feuth
- , Ernie M H F Bongers
- , Petra de Vries
- , Hans Scheffer
- , Lisenka E L M Vissers
- , Arjan P M de Brouwer
- , Han G Brunner
- , Joris A Veltman
- , Annette Schenck
- , Helger G Yntema
- & Bert B A de Vries
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Research |
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Research |
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
- Josefine S Witteveen
- , Marjolein H Willemsen
- , Thaís C D Dombroski
- , Nick H M van Bakel
- , Willy M Nillesen
- , Josephus A van Hulten
- , Eric J R Jansen
- , Dave Verkaik
- , Hermine E Veenstra-Knol
- , Conny M A van Ravenswaaij-Arts
- , Jolien S Klein Wassink-Ruiter
- , Marie Vincent
- , Albert David
- , Cedric Le Caignec
- , Jolanda Schieving
- , Christian Gilissen
- , Nicola Foulds
- , Patrick Rump
- , Tim Strom
- , Kirsten Cremer
- , Alexander M Zink
- , Hartmut Engels
- , Sonja A de Munnik
- , Jasper E Visser
- , Han G Brunner
- , Gerard J M Martens
- , Rolph Pfundt
- , Tjitske Kleefstra
- & Sharon M Kolk
