21. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients. Issue 2 (1st February 2001) Authors: Eggermann, Thomas; Mergenthaler, Susanne; Eggermann, Katja; Albers, Alexandra; Linnemann, Knud; Fusch, Christoph; Ranke, Michael B; Wollmann, Hartmut A Journal: Journal of medical genetics Issue: Volume 38:Issue 2(2001) Page Start: 86 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
22. Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. Issue 1 (December 2015) Authors: Eggermann, Thomas; Perez de Nanclares, Guiomar; Maher, Eamonn; Temple, I.; Tümer, Zeynep; Monk, David; Mackay, Deborah; Grønskov, Karen; Riccio, Andrea; Linglart, Agnès; Netchine, Irène Journal: Clinical epigenetics Issue: Volume 7:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
23. Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci. Issue 1 (December 2015) Authors: Eggermann, Thomas; Perez de Nanclares, Guiomar; Maher, Eamonn; Temple, I.; Tümer, Zeynep; Monk, David; Mackay, Deborah; Grønskov, Karen; Riccio, Andrea; Linglart, Agnès; Netchine, Irène Journal: Clinical epigenetics Issue: Volume 7:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
24. Inherited cases of CNOT3‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies. Issue 4 (19th August 2020) Authors: Meyer, Robert; Begemann, Matthias; Demuth, Stephanie; Kraft, Florian; Dey, Daniela; Schüler, Herdit; Busse, Sabine; Häusler, Martin; Zerres, Klaus; Kurth, Ingo; Eggermann, Thomas; Elbracht, Miriam Journal: Clinical genetics Issue: Volume 98:Issue 4(2020) Page Start: 408 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
25. Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome. Issue 4 (28th January 2020) Authors: Altmann, Judith; Horn, Denise; Korinth, Dirk; Eggermann, Thomas; Henrich, Wolfgang; Verlohren, Stefan Journal: Journal of clinical ultrasound Issue: Volume 48:Issue 4(2020) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
26. Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation. Issue 1 (December 2016) Authors: Bohne, Florian; Langer, David; Martiné, Ursula; Eider, Claudia; Cencic, Regina; Begemann, Matthias; Elbracht, Miriam; Bülow, Luzie; Eggermann, Thomas; Zechner, Ulrich; Pelletier, Jerry; Zabel, Bernhard; Enklaar, Thorsten; Prawitt, Dirk Journal: Clinical epigenetics Issue: Volume 8:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
27. Male infant with paternal uniparental diploidy mosaicism and a 46, XX/46, XY karyotype. Issue 11 (1st August 2019) Authors: Spier, Isabel; Engels, Hartmut; Stutte, Sonja; Reutter, Heiko; Bartels, Enrika; Matos Meder, Sarah; Begemann, Matthias; Mangold, Elisabeth; Eggermann, Thomas Journal: American journal of medical genetics Issue: Volume 179:Issue 11(2019) Page Start: 2252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
28. Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring. Issue 7 (24th March 2018) Authors: Begemann, Matthias; Rezwan, Faisal I; Beygo, Jasmin; Docherty, Louise E; Kolarova, Julia; Schroeder, Christopher; Buiting, Karin; Chokkalingam, Kamal; Degenhardt, Franziska; Wakeling, Emma L; Kleinle, Stephanie; González Fassrainer, Daniela; Oehl-Jaschkowitz, Barbara; Turner, Claire L S; Patalan,... Journal: Journal of medical genetics Issue: Volume 55:Issue 7(2018) Page Start: 497 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
29. Microdeletions of the 7q32.2 imprinted region are associated with Silver–Russell syndrome features. Issue 3 (10th December 2015) Authors: Carrera, Ignacio Arroyo; de Zaldívar, María Solo; Martín, Rebeca; Begemann, Matthias; Soellner, Lukas; Eggermann, Thomas Journal: American journal of medical genetics Issue: Volume 170:Issue 3(2016) Page Start: 743 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
30. Molecular pathophysiology of human MICU1 deficiency. (22nd February 2021) Authors: Kohlschmidt, Nicolai; Elbracht, Miriam; Czech, Artur; Häusler, Martin; Phan, Vietxuan; Töpf, Ana; Huang, Kai‐Ting; Bartok, Adam; Eggermann, Katja; Zippel, Stephanie; Eggermann, Thomas; Freier, Erik; Groß, Claudia; Lochmüller, Hanns; Horvath, Rita; Hajnóczky, György; Weis, Joachim; Roos, Andreas Journal: Neuropathology & applied neurobiology Issue: Volume 47:Number 6(2021) Page Start: 840 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗