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Journal of Neurology|March 12, 2009
Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findingsBurak Durmaz, Bernd Wollnik, Ozgur Cogulu, et al.Biological Chemistry|March 30, 2016
A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of productJanine Altmüller, Susanne Motameny, Christian Becker, et al.American Journal of Medical Genetics. Part A|April 28, 2017
Wiedemann-Rautenstrauch syndrome: A phenotype analysisStefano Paolacci, Debora Bertola, José Franco, et al.Stem Cell Research|April 7, 2024
Generation of a pluripotent stem cell line (UMGi270-A) and a corresponding CRISPR/Cas9 modified isogenic control (UMGi270-A-1) from a patient with sudden onset dilated cardiomyopathy harboring a FLNC p.R2187P mutationWiebke Maurer, Sabine Rebs, Steffen Köhne, et al.American Journal of Medical Genetics. Part A|September 2, 2003
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndromeBernd Wollnik, Turgut Tukel, Oya Uyguner, et al.American Journal of Medical Genetics. Part A|January 22, 2016
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrumShahida Moosa, Maria Gabriela Obregon, Janine Altmüller, et al.European Journal of Human Genetics : EJHG|May 10, 2021
Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasiaEmma M Wade, Padmini Parthasarathy, Jingyi Mi, et al.Elife|May 31, 2016
Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunitJulia Hatzold, Filippo Beleggia, Hannah Herzig, et al.American Journal of Medical Genetics. Part A|May 3, 2013
Severe Cenani-Lenz syndrome caused by loss of LRP4 functionAriana Kariminejad, Barbara Stollfuß, Yun Li, et al.Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG|February 18, 2020
Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genesKonrad Bork, Arne Zibat, David M Ferrari, et al.Pageof 17