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Nature Genetics|February 28, 2006
Mutations in different components of FGF signaling in LADD syndromeEdyta Rohmann, Han G Brunner, Hülya Kayserili, et al.
Epilepsia|October 24, 2006
Exploration of the genetic architecture of idiopathic generalized epilepsiesAnne Hempelmann, Kirsten P Taylor, Armin Heils, et al.
Human Mutation|June 3, 2018
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophiesMert Karakaya, Markus Storbeck, Eike A Strathmann, et al.
Nature Genetics|November 11, 2008
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golginHans Christian Hennies, Uwe Kornak, Haikuo Zhang, et al.
American Journal of Human Genetics|December 7, 2014
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndromeNadja Ehmke, Almuth Caliebe, Rainer Koenig, et al.
Atherosclerosis|April 17, 2016
Update of the effect estimates for common variants associated with carotid intima media thickness within four independent samples: The Bonn IMT Family Study, the Heinz Nixdorf Recall Study, the SAPHIR Study and the Bruneck StudyMarie H Geisel, Stefan Coassin, Nicole Heßler, et al.
Human Mutation|December 11, 2019
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotypeGökhan Yigit, Ken Saida, Danielle DeMarzo, et al.
Annals of Human Genetics|June 10, 2021
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese familiesMahmoud Koko, Ashraf Yahia, Liena E Elsayed, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 28, 2012
Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gatingBoris B Quednow, Jürgen Brinkmeyer, Arian Mobascher, et al.
Cell Death and Differentiation|January 7, 2018
Consensus molecular subtypes of colorectal cancer are recapitulated in in vitro and in vivo modelsJanneke F Linnekamp, Sander R van Hooff, Pramudita R Prasetyanti, et al.
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