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Plos One|November 13, 2012
Fetal mesenchymal stromal cells differentiating towards chondrocytes acquire a gene expression profile resembling human growth plate cartilageSandy A van Gool, Joyce A M Emons, Jeroen C H Leijten, et al.
American Journal of Human Genetics|March 13, 2012
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disabilityJuliane Hoyer, Arif B Ekici, Sabine Endele, et al.
American Journal of Human Genetics|September 22, 2005
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosisSara Benito-Sanz, N Simon Thomas, Céline Huber, et al.
Human Molecular Genetics|July 11, 2008
First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndromeJohannes Kapeller, Lesley A Houghton, Hubert Mönnikes, et al.
Gut|January 14, 2017
miR-16 and miR-125b are involved in barrier function dysregulation through the modulation of claudin-2 and cingulin expression in the jejunum in IBS with diarrhoeaCristina Martínez, Bruno K Rodiño-Janeiro, Beatriz Lobo, et al.
Nature Genetics|October 5, 2010
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesSabine Endele, Georg Rosenberger, Kirsten Geider, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 24, 2012
Srgap3⁻/⁻ mice present a neurodevelopmental disorder with schizophrenia-related intermediate phenotypesRobert Waltereit, Uwe Leimer, Oliver von Bohlen Und Halbach, et al.
Journal of Medical Genetics|September 29, 2011
Phenotypic spectrum associated with CASK loss-of-function mutationsUte Moog, Kerstin Kutsche, Fanny Kortüm, et al.
World Journal of Gastroenterology|July 8, 2022
Serotonin type 3 receptor subunit gene polymorphisms associated with psychosomatic symptoms in irritable bowel syndrome: A multicenter retrospective studySabrina Berens, Yuanjun Dong, Nikola Fritz, et al.
Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.
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