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Journal of Neurology|February 16, 2019
Congenital myasthenic syndrome caused by novel COL13A1 mutationsMarina Dusl, Teresa Moreno, Francina Munell, et al.
Human Genetics|February 10, 2017
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomaliesMaja Hempel, Teresa Casar Tena, Thilo Diehl, et al.
American Journal of Medical Genetics. Part A|May 7, 2014
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizuresKonrad Platzer, Irina Hüning, Carolin Obieglo, et al.
Plos Pathogens|October 2, 2010
CpG-methylation regulates a class of Epstein-Barr virus promotersMartin Bergbauer, Markus Kalla, Anne Schmeinck, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 18, 2016
Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomyIngo Kurth, Manuela Baumgartner, Maria Schabhüttl, et al.
European Journal of Human Genetics : EJHG|February 4, 2016
A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndromeJasmin Beygo, Ivana Joksic, Tim M Strom, et al.
Neuromuscular Disorders : NMD|April 6, 2012
Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 geneRune Østern, Toril Fagerheim, Kristin Ørstavik, et al.
Ebiomedicine|April 20, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databasesJing Tan, Matias Wagner, Sarah L Stenton, et al.
Molecular Systems Biology|July 16, 2015
Time- and compartment-resolved proteome profiling of the extracellular niche in lung injury and repairHerbert B Schiller, Isis E Fernandez, Gerald Burgstaller, et al.
European Journal of Medical Genetics|April 30, 2021
TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotypeCamille Cenni, Stephanie Andres, Maja Hempel, et al.
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