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American Journal of Human Genetics|November 22, 2016
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5AChanshuai Han, Reem Alkhater, Tawfiq Froukh, et al.Brain : a Journal of Neurology|April 23, 2019
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmusAnja K Mayer, Muhammad Mahajnah, Mervyn G Thomas, et al.Orphanet Journal of Rare Diseases|August 29, 2019
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndromeClaudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, et al.Frontiers in Genetics|August 21, 2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive FamiliesLior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, et al.International Journal of Molecular Sciences|October 23, 2019
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation TestXiao Feng, Claudia Cozma, Supansa Pantoom, et al.The Journal of Allergy and Clinical Immunology|January 28, 2014
Early-life determinants of asthma from birth to age 20 years: a German birth cohort studyLinus B Grabenhenrich, Hannah Gough, Andreas Reich, et al.Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|May 27, 2015
Allergic multimorbidity of asthma, rhinitis and eczema over 20 years in the German birth cohort MASHannah Gough, Linus Grabenhenrich, Andreas Reich, et al.Journal of Medical Genetics|August 31, 2016
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrumMiriam S Reuter, Angelika Riess, Ute Moog, et al.Virchows Archiv : an International Journal of Pathology|June 18, 2024
Expression of the tumor antigens NY-ESO-1, tyrosinase, MAGE-A3, and TPTE in pediatric and adult melanoma: a retrospective case control studyStephan Forchhammer, Oltin Tiberiu Pop, Matthias Hahn, et al.Clinical Nutrition (Edinburgh, Scotland)|May 16, 2006
The German hospital malnutrition studyMatthias Pirlich, Tatjana Schütz, Kristina Norman, et al.Pageof 67