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Research | 27 January 2016
Against all odds: blended phenotypes of three single-gene defects
European Journal of Human Genetics 24 , 1274–1279

Rights & permissionsfor article Against all odds: blended phenotypes of three single-gene defects . Opens in a new window.
Correspondence | 1 August 2005
Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor
- Dirk Prawitt
- , Thorsten Enklaar
- , Barbara Gärtner-Rupprecht
- , Christian Spangenberg
- , Ekkehart Lausch
- , Dirk Reutzel
- , Stephan Fees
- , Maria Korzon
- , Izabela Brozek
- , Janusz Limon
- , David E Housman
- , Jerry Pelletier
- & Bernhard Zabel
Nature Genetics 37 , 785–786

Rights & permissionsfor article Microdeletion and <i>IGF2</i> loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor . Opens in a new window.
27 May 2010
TRPV4-pathy, a novel channelopathy affecting diverse systems
- Jin Dai
- , Tae-Joon Cho
- , Sheila Unger
- , Ekkehart Lausch
- , Gen Nishimura
- , Ok-Hwa Kim
- , Andrea Superti-Furga
- & Shiro Ikegawa
Journal of Human Genetics 55 , 400–402

Rights & permissionsfor article <i>TRPV4</i>-pathy, a novel channelopathy affecting diverse systems . Opens in a new window.
Research | 25 July 2017 | Open
Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation
Scientific Reports 7 , 1–15

Rights & permissionsfor article Expression of <i>RMRP</i> RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation . Opens in a new window.
Research | 12 June 2017 | Open
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome
Nature Communications 8 , 1–10

Rights & permissionsfor article CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome . Opens in a new window.
Research | 9 January 2011
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
- Ekkehart Lausch
- , Andreas Janecke
- , Matthias Bros
- , Stefanie Trojandt
- , Yasemin Alanay
- , Corinne De Laet
- , Christian A Hübner
- , Peter Meinecke
- , Gen Nishimura
- , Mari Matsuo
- , Yoshiko Hirano
- , Sylvie Tenoutasse
- , Andrea Kiss
- , Rafael Fabiano Machado Rosa
- , Sharon L Unger
- , Raffaele Renella
- , Luisa Bonafé
- , Jürgen Spranger
- , Sheila Unger
- , Bernhard Zabel
- & Andrea Superti-Furga
Nature Genetics 43 , 132–137

Rights & permissionsfor article Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity . Opens in a new window.

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