1. A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype. (28th March 2015) Authors: Kordaß, Ulrike; Schröder, Carmen; Elbracht, Miriam; Soellner, Lukas; Eggermann, Thomas Journal: American journal of medical genetics Issue: Volume 167:Number 5(2015:May) Page Start: 1121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. Issue 6 (5th June 2007) Authors: Elbracht, Miriam; Senderek, Jan; Eggermann, Thomas; Thürmer, Christian; Park, Jonas; Westhofen, Martin; Zerres, Klaus Journal: Journal of medical genetics Issue: Volume 44:Issue 6(2007) Page Start: e81 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives. Issue 11 (10th October 2022) Authors: van der Kaay, Danielle Christine Maria; Rochtus, Anne; Binder, Gerhard; Kurth, Ingo; Prawitt, Dirk; Netchine, Irène; Johannsson, Gudmundur; Hokken-Koelega, Anita C S; Elbracht, Miriam; Eggermann, Thomas Journal: Endocrine connections Issue: Volume 11:Issue 11(2023) Page Start: 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. 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) ↗
8. Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. Issue 10 (October 2014) Authors: Morin, Gilles; Bruechle, Nadina Ortiz; Singh, Amrathlal Rabbind; Knopp, Cordula; Jedraszak, Guillaume; Elbracht, Miriam; Brémond‐Gignac, Dominique; Hartmann, Kathi; Sevestre, Henri; Deutz, Peter; Hérent, Didier; Nürnberg, Peter; Roméo, Bernard; Konrad, Kerstin; Mathieu‐Dramard, Michèle; Oldenburg... Journal: Human mutation Issue: Volume 35:Issue 10(2014:Oct.) Page Start: 1121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. Issue 12 (December 2014) Authors: Morin, Gilles; Bruechle, Nadina Ortiz; Singh, Amrathlal Rabbind; Knopp, Cordula; Jedraszak, Guillaume; Elbracht, Miriam; Brémond‐Gignac, Dominique; Hartmann, Kathi; Sevestre, Henri; Deutz, Peter; Hérent, Didier; Nürnberg, Peter; Roméo, Bernard; Konrad, Kerstin; Mathieu‐Dramard, Michèle; Oldenburg... Journal: Human mutation Issue: Volume 35:Issue 12(2014:Dec.) Page Start: 1542 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors. Issue 2 (14th January 2014) Authors: Spiegler, Stefanie; Najm, Juliane; Liu, Jian; Gkalympoudis, Stephanie; Schröder, Winnie; Borck, Guntram; Brockmann, Knut; Elbracht, Miriam; Fauth, Christine; Ferbert, Andreas; Freudenberg, Leonie; Grasshoff, Ute; Hellenbroich, Yorck; Henn, Wolfram; Hoffjan, Sabine; Hüning, Irina; Korenke, G. Chri... Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 2(2014:Mar.) Page Start: 176 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗