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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 |
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy
- Arjan PM de Brouwer
- , Sander B Nabuurs
- , Ingrid EC Verhaart
- , Astrid R Oudakker
- , Roel Hordijk
- , Helger G Yntema
- , Jannet M Hordijk-Hos
- , Krysta Voesenek
- , Bert BA de Vries
- , Ton van Essen
- , Wei Chen
- , Hao Hu
- , Jamel Chelly
- , Johan T den Dunnen
- , Vera M Kalscheuer
- , Annemieke M Aartsma-Rus
- , Ben CJ Hamel
- , Hans van Bokhoven
- & Tjitske Kleefstra
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Research |
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Research |
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Research |
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration
- Zafar Iqbal
- , Lucia Püttmann
- , Luciana Musante
- , Attia Razzaq
- , Muhammad Yasir Zahoor
- , Hao Hu
- , Thomas F Wienker
- , Masoud Garshasbi
- , Zohreh Fattahi
- , Christian Gilissen
- , Lisenka ELM Vissers
- , Arjan PM de Brouwer
- , Joris A Veltman
- , Rolph Pfundt
- , Hossein Najmabadi
- , Hans-Hilger Ropers
- , Sheikh Riazuddin
- , Kimia Kahrizi
- & Hans van Bokhoven
