1. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. Issue 9 (26th July 2012) Authors: Begemann, Matthias; Spengler, Sabrina; Gogiel, Magdalena; Grasshoff, Ute; Bonin, Michael; Betz, Regina C; Dufke, Andreas; Spier, Isabel; Eggermann, Thomas Journal: Journal of medical genetics Issue: Volume 49:Issue 9(2012) Page Start: 547 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Comparison of flow‐FISH and MM–qPCR telomere length assessment techniques for the screening of telomeropathies. Issue 1 (24th October 2019) Authors: Ferreira, Monica S. Ventura; Kirschner, Martin; Halfmeyer, Insa; Estrada, Natalia; Xicoy, Blanca; Isfort, Susanne; Vieri, Margherita; Zamora, Lurdes; Abels, Anne; Bouillon, Anne‐Sophie; Begemann, Matthias; Schemionek, Mirle; Maurer, Angela; Koschmieder, Steffen; Wilop, Stefan; Panse, Jens; Brümme... Journal: Annals of the New York Academy of Sciences Issue: Volume 1466:Issue 1(2020) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management. Issue 5 (October 2015) Authors: Soellner, Lukas; Monk, David; Rezwan, Faisal I.; Begemann, Matthias; Mackay, Deborah; Eggermann, Thomas Journal: Molecular and cellular probes Issue: Volume 29:Issue 5(2015) Page Start: 282 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences. (18th February 2020) Authors: Elbracht, Miriam; Mackay, Deborah; Begemann, Matthias; Kagan, Karl Oliver; Eggermann, Thomas Journal: Human reproduction update Issue: Volume 26:Number 2(2020) Page Start: 197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Epigenetic and genetic diagnosis of Silver–Russell syndrome. (June 2012) Authors: Eggermann, Thomas; Spengler, Sabrina; Gogiel, Magdalena; Begemann, Matthias; Elbracht, Miriam Journal: Expert review of molecular diagnostics Issue: Volume 12:Number 5(2012) Page Start: 459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Epigenetic and genetic diagnosis of Silver–Russell syndrome. (June 2012) Authors: Eggermann, Thomas; Spengler, Sabrina; Gogiel, Magdalena; Begemann, Matthias; Elbracht, Miriam Journal: Expert review of molecular diagnostics Issue: Volume 12:Number 5(2012) Page Start: 459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes. Issue 1 (December 2016) Authors: Sachwitz, Jana; Strobl-Wildemann, Getrud; Fekete, György; Ambrozaitytė, Laima; Kučinskas, Vaidutis; Soellner, Lukas; Begemann, Matthias; Eggermann, Thomas Journal: BMC medical genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. Issue 6 (4th November 2018) Authors: Elbracht, Miriam; Kraft, Florian; Begemann, Matthias; Holschbach, Petra; Mull, Michael; Kabat, Ildiko M.; Müller, Britta; Häusler, Martin; Kurth, Ingo; Hehr, Ute Journal: Molecular genetics & genomic medicine Issue: Volume 6:Issue 6(2018) Page Start: 1255 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria. Issue 5 (20th May 2023) Authors: Tometten, Mareike; Kirschner, Martin; Meyer, Robert; Begemann, Matthias; Halfmeyer, Insa; Vieri, Margherita; Kricheldorf, Kim; Maurer, Angela; Platzbecker, Uwe; Radsak, Markus; Schafhausen, Philippe; Corbacioglu, Selim; Höchsmann, Britta; Matthias Wilk, C.; Hinze, Claas; Chromik, Jörg; Heuser, Mi... Journal: HemaSphere Issue: Volume 7:Issue 5(2023) Page Start: e874 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗